Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Clinical course (HP:0031797)

Parent Node:
Onset (HP:0003674)

..Starting node
..Congenital onset (HP:0003577)

Term ID:

3577

Name:

Congenital onset

Synonym:

Onset at birth; Symptoms present at birth

Definition:

A phenotypic abnormality that is present at birth.

Comments:

Reference:

HP:0003577

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adult onset (HP:0003581)

Antenatal onset (HP:0030674)

Childhood onset (HP:0011463)

Infantile onset (HP:0003593)

Juvenile onset (HP:0003621)

Neonatal onset (HP:0003623)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003577	HP:0003577	Congenital onset	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0003577	HP:0003577	Congenital onset	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0003577	HP:0003577	Congenital onset	0	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0003577	HP:0003577	Congenital onset	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0003577	HP:0003577	Congenital onset	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0003577	HP:0003577	Congenital onset	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0003577	HP:0003577	Congenital onset	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0003577	HP:0003577	Congenital onset	0	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0003577	HP:0003577	Congenital onset	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0003577	HP:0003577	Congenital onset	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0003577	HP:0003577	Congenital onset	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0003577	HP:0003577	Congenital onset	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0003577	HP:0003577	Congenital onset	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0003577	HP:0003577	Congenital onset	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0003577	HP:0003577	Congenital onset	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal		161
HP:0003577	HP:0003577	Congenital onset	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0003577	HP:0003577	Congenital onset	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0003577	HP:0003577	Congenital onset	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0003577	HP:0003577	Congenital onset	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0003577	HP:0003577	Congenital onset	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0003577	HP:0003577	Congenital onset	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0003577	HP:0003577	Congenital onset	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0003577	HP:0003577	Congenital onset	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0003577	HP:0003577	Congenital onset	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0003577	HP:0003577	Congenital onset	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0003577	HP:0003577	Congenital onset	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0003577	HP:0003577	Congenital onset	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0003577	HP:0003577	Congenital onset	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0003577	HP:0003577	Congenital onset	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0003577	HP:0003577	Congenital onset	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0003577	HP:0003577	Congenital onset	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2		132
HP:0003577	HP:0003577	Congenital onset	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II		9
HP:0003577	HP:0003577	Congenital onset	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II		8
HP:0003577	HP:0003577	Congenital onset	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0003577	HP:0003577	Congenital onset	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0003577	HP:0003577	Congenital onset	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0003577	HP:0003577	Congenital onset	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0003577	HP:0003577	Congenital onset	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0003577	HP:0003577	Congenital onset	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0003577	HP:0003577	Congenital onset	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0003577	HP:0003577	Congenital onset	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0003577	HP:0003577	Congenital onset	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0003577	HP:0003577	Congenital onset	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0003577	HP:0003577	Congenital onset	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0003577	HP:0003577	Congenital onset	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0003577	HP:0003577	Congenital onset	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0003577	HP:0003577	Congenital onset	0	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.	45
HP:0003577	HP:0003577	Congenital onset	0	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0003577	HP:0003577	Congenital onset	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0003577	HP:0003577	Congenital onset	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3		29
HP:0003577	HP:0003577	Congenital onset	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0003577	HP:0003577	Congenital onset	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0003577	HP:0003577	Congenital onset	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2	.	2
HP:0003577	HP:0003577	Congenital onset	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0003577	HP:0003577	Congenital onset	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0003577	HP:0003577	Congenital onset	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0003577	HP:0003577	Congenital onset	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0003577	HP:0003577	Congenital onset	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0003577	HP:0003577	Congenital onset	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0003577	HP:0003577	Congenital onset	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0003577	HP:0003577	Congenital onset	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive		4
HP:0003577	HP:0003577	Congenital onset	0	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked	.	1
HP:0003577	HP:0003577	Congenital onset	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0003577	HP:0003577	Congenital onset	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0003577	HP:0003577	Congenital onset	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0003577	HP:0003577	Congenital onset	0	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0003577	HP:0003577	Congenital onset	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0003577	HP:0003577	Congenital onset	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0003577	HP:0003577	Congenital onset	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0003577	HP:0003577	Congenital onset	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0003577	HP:0003577	Congenital onset	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant	.	5
HP:0003577	HP:0003577	Congenital onset	0	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4	.	24
HP:0003577	HP:0003577	Congenital onset	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0003577	HP:0003577	Congenital onset	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0003577	HP:0003577	Congenital onset	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0003577	HP:0003577	Congenital onset	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0003577	HP:0003577	Congenital onset	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0003577	HP:0003577	Congenital onset	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0003577	HP:0003577	Congenital onset	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4		87
HP:0003577	HP:0003577	Congenital onset	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0003577	HP:0003577	Congenital onset	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0003577	HP:0003577	Congenital onset	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0003577	HP:0003577	Congenital onset	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0003577	HP:0003577	Congenital onset	0	BHLHA9 CL E G H	727857	35126	OMIM:607539	Camptosynpolydactyly, complex		4
HP:0003577	HP:0003577	Congenital onset	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0003577	HP:0003577	Congenital onset	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0003577	HP:0003577	Congenital onset	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0003577	HP:0003577	Congenital onset	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0003577	HP:0003577	Congenital onset	0	BMPR1B CL E G H	658	1077	OMIM:616849	BRACHYDACTYLY, TYPE A1, D; BDA1D		90
HP:0003577	HP:0003577	Congenital onset	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0003577	HP:0003577	Congenital onset	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0003577	HP:0003577	Congenital onset	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0003577	HP:0003577	Congenital onset	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0003577	HP:0003577	Congenital onset	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0003577	HP:0003577	Congenital onset	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0003577	HP:0003577	Congenital onset	0	C18ORF32 CL E G H	497661	31690	OMIM:619985
HP:0003577	HP:0003577	Congenital onset	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0003577	HP:0003577	Congenital onset	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003577	HP:0003577	Congenital onset	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.	8
HP:0003577	HP:0003577	Congenital onset	0	CABP2 CL E G H	51475	1385	OMIM:614899	Deafness, autosomal recessive 93		2
HP:0003577	HP:0003577	Congenital onset	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0003577	HP:0003577	Congenital onset	0	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness		51
HP:0003577	HP:0003577	Congenital onset	0	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0003577	HP:0003577	Congenital onset	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0003577	HP:0003577	Congenital onset	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0003577	HP:0003577	Congenital onset	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0003577	HP:0003577	Congenital onset	0	CATSPER2 CL E G H	117155	18810	OMIM:611102	Deafness, sensorineural, and male infertility		12
HP:0003577	HP:0003577	Congenital onset	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0003577	HP:0003577	Congenital onset	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0003577	HP:0003577	Congenital onset	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93		247
HP:0003577	HP:0003577	Congenital onset	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.	36
HP:0003577	HP:0003577	Congenital onset	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0003577	HP:0003577	Congenital onset	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0003577	HP:0003577	Congenital onset	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0003577	HP:0003577	Congenital onset	0	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1	.	54
HP:0003577	HP:0003577	Congenital onset	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0003577	HP:0003577	Congenital onset	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0003577	HP:0003577	Congenital onset	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0003577	HP:0003577	Congenital onset	0	CDC14A CL E G H	8556	1718	OMIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm		2
HP:0003577	HP:0003577	Congenital onset	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0003577	HP:0003577	Congenital onset	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0003577	HP:0003577	Congenital onset	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0003577	HP:0003577	Congenital onset	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0003577	HP:0003577	Congenital onset	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3	.	4
HP:0003577	HP:0003577	Congenital onset	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0003577	HP:0003577	Congenital onset	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0003577	HP:0003577	Congenital onset	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0003577	HP:0003577	Congenital onset	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0003577	HP:0003577	Congenital onset	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0003577	HP:0003577	Congenital onset	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.	3
HP:0003577	HP:0003577	Congenital onset	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0003577	HP:0003577	Congenital onset	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0003577	HP:0003577	Congenital onset	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0003577	HP:0003577	Congenital onset	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6	.	161
HP:0003577	HP:0003577	Congenital onset	0	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive	.	38
HP:0003577	HP:0003577	Congenital onset	0	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6		31
HP:0003577	HP:0003577	Congenital onset	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0003577	HP:0003577	Congenital onset	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0003577	HP:0003577	Congenital onset	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0003577	HP:0003577	Congenital onset	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal		17
HP:0003577	HP:0003577	Congenital onset	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal		13
HP:0003577	HP:0003577	Congenital onset	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003577	HP:0003577	Congenital onset	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0003577	HP:0003577	Congenital onset	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0003577	HP:0003577	Congenital onset	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0003577	HP:0003577	Congenital onset	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0003577	HP:0003577	Congenital onset	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0003577	HP:0003577	Congenital onset	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0003577	HP:0003577	Congenital onset	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.	53
HP:0003577	HP:0003577	Congenital onset	0	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	.	53
HP:0003577	HP:0003577	Congenital onset	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0003577	HP:0003577	Congenital onset	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0003577	HP:0003577	Congenital onset	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0003577	HP:0003577	Congenital onset	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0003577	HP:0003577	Congenital onset	0	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ	.	15
HP:0003577	HP:0003577	Congenital onset	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0003577	HP:0003577	Congenital onset	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0003577	HP:0003577	Congenital onset	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0003577	HP:0003577	Congenital onset	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0003577	HP:0003577	Congenital onset	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0003577	HP:0003577	Congenital onset	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0003577	HP:0003577	Congenital onset	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0003577	HP:0003577	Congenital onset	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0003577	HP:0003577	Congenital onset	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.	38
HP:0003577	HP:0003577	Congenital onset	0	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0003577	HP:0003577	Congenital onset	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA		60
HP:0003577	HP:0003577	Congenital onset	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0003577	HP:0003577	Congenital onset	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0003577	HP:0003577	Congenital onset	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	.	2
HP:0003577	HP:0003577	Congenital onset	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0003577	HP:0003577	Congenital onset	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.	16
HP:0003577	HP:0003577	Congenital onset	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0003577	HP:0003577	Congenital onset	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0003577	HP:0003577	Congenital onset	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.	71
HP:0003577	HP:0003577	Congenital onset	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0003577	HP:0003577	Congenital onset	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0003577	HP:0003577	Congenital onset	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0003577	HP:0003577	Congenital onset	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.	6
HP:0003577	HP:0003577	Congenital onset	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0003577	HP:0003577	Congenital onset	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0003577	HP:0003577	Congenital onset	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0003577	HP:0003577	Congenital onset	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2		243
HP:0003577	HP:0003577	Congenital onset	0	COL25A1 CL E G H	84570	18603	OMIM:616219	Fibrosis of extraocular muscles, congenital, 5	.	3
HP:0003577	HP:0003577	Congenital onset	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0003577	HP:0003577	Congenital onset	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0003577	HP:0003577	Congenital onset	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0003577	HP:0003577	Congenital onset	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0003577	HP:0003577	Congenital onset	0	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6		18
HP:0003577	HP:0003577	Congenital onset	0	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.	263
HP:0003577	HP:0003577	Congenital onset	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0003577	HP:0003577	Congenital onset	0	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails		263
HP:0003577	HP:0003577	Congenital onset	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0003577	HP:0003577	Congenital onset	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7		24
HP:0003577	HP:0003577	Congenital onset	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.	1
HP:0003577	HP:0003577	Congenital onset	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0003577	HP:0003577	Congenital onset	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0003577	HP:0003577	Congenital onset	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0003577	HP:0003577	Congenital onset	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0003577	HP:0003577	Congenital onset	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.	12
HP:0003577	HP:0003577	Congenital onset	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.	4
HP:0003577	HP:0003577	Congenital onset	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0003577	HP:0003577	Congenital onset	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2		19
HP:0003577	HP:0003577	Congenital onset	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0003577	HP:0003577	Congenital onset	0	CRYAB CL E G H	1410	2389	OMIM:613763	Cataract, posterior polar, 2		46
HP:0003577	HP:0003577	Congenital onset	0	CRYBA1 CL E G H	1411	2394	OMIM:600881	Cataract, congenital zonular, with sutural opacities		9
HP:0003577	HP:0003577	Congenital onset	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0003577	HP:0003577	Congenital onset	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0003577	HP:0003577	Congenital onset	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0003577	HP:0003577	Congenital onset	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0003577	HP:0003577	Congenital onset	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0003577	HP:0003577	Congenital onset	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0003577	HP:0003577	Congenital onset	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0003577	HP:0003577	Congenital onset	0	CYP19A1 CL E G H	1588	2594	OMIM:613546	Aromatase deficiency		60
HP:0003577	HP:0003577	Congenital onset	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0003577	HP:0003577	Congenital onset	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0003577	HP:0003577	Congenital onset	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0003577	HP:0003577	Congenital onset	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0003577	HP:0003577	Congenital onset	0	DCDC2 CL E G H	51473	18141	OMIM:610212	Deafness, autosomal recessive 66		8
HP:0003577	HP:0003577	Congenital onset	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0003577	HP:0003577	Congenital onset	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0003577	HP:0003577	Congenital onset	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0003577	HP:0003577	Congenital onset	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0003577	HP:0003577	Congenital onset	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0003577	HP:0003577	Congenital onset	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0003577	HP:0003577	Congenital onset	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0003577	HP:0003577	Congenital onset	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss		3
HP:0003577	HP:0003577	Congenital onset	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0003577	HP:0003577	Congenital onset	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.	63
HP:0003577	HP:0003577	Congenital onset	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0003577	HP:0003577	Congenital onset	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0003577	HP:0003577	Congenital onset	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0003577	HP:0003577	Congenital onset	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0003577	HP:0003577	Congenital onset	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0003577	HP:0003577	Congenital onset	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0003577	HP:0003577	Congenital onset	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0003577	HP:0003577	Congenital onset	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0003577	HP:0003577	Congenital onset	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0003577	HP:0003577	Congenital onset	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0003577	HP:0003577	Congenital onset	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0003577	HP:0003577	Congenital onset	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0003577	HP:0003577	Congenital onset	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33		18
HP:0003577	HP:0003577	Congenital onset	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0003577	HP:0003577	Congenital onset	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6		63
HP:0003577	HP:0003577	Congenital onset	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0003577	HP:0003577	Congenital onset	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0003577	HP:0003577	Congenital onset	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0003577	HP:0003577	Congenital onset	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0003577	HP:0003577	Congenital onset	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003577	HP:0003577	Congenital onset	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	.	14
HP:0003577	HP:0003577	Congenital onset	0	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0003577	HP:0003577	Congenital onset	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0003577	HP:0003577	Congenital onset	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0003577	HP:0003577	Congenital onset	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction		13
HP:0003577	HP:0003577	Congenital onset	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0003577	HP:0003577	Congenital onset	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0003577	HP:0003577	Congenital onset	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0003577	HP:0003577	Congenital onset	0	EDN3 CL E G H	1908	3178	OMIM:613712	Hirschsprung disease, susceptibility to, 4		67
HP:0003577	HP:0003577	Congenital onset	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0003577	HP:0003577	Congenital onset	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0003577	HP:0003577	Congenital onset	0	EDNRB CL E G H	1910	3180	OMIM:600155	Hirschsprung disease, susceptibility to, 2		55
HP:0003577	HP:0003577	Congenital onset	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0003577	HP:0003577	Congenital onset	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0003577	HP:0003577	Congenital onset	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.	58
HP:0003577	HP:0003577	Congenital onset	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0003577	HP:0003577	Congenital onset	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0003577	HP:0003577	Congenital onset	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0003577	HP:0003577	Congenital onset	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0003577	HP:0003577	Congenital onset	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0003577	HP:0003577	Congenital onset	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0003577	HP:0003577	Congenital onset	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0003577	HP:0003577	Congenital onset	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0003577	HP:0003577	Congenital onset	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0003577	HP:0003577	Congenital onset	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0003577	HP:0003577	Congenital onset	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0003577	HP:0003577	Congenital onset	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0003577	HP:0003577	Congenital onset	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0003577	HP:0003577	Congenital onset	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0003577	HP:0003577	Congenital onset	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0003577	HP:0003577	Congenital onset	0	EPS8 CL E G H	2059	3420	OMIM:615974	Deafness, autosomal recessive 102	.	2
HP:0003577	HP:0003577	Congenital onset	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0003577	HP:0003577	Congenital onset	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0003577	HP:0003577	Congenital onset	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive		54
HP:0003577	HP:0003577	Congenital onset	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q		158
HP:0003577	HP:0003577	Congenital onset	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0003577	HP:0003577	Congenital onset	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0003577	HP:0003577	Congenital onset	0	ERGIC1 CL E G H	57222	29205	OMIM:208100	Arthrogryposis multiplex congenita, Neurogenic type	.
HP:0003577	HP:0003577	Congenital onset	0	ESRRB CL E G H	2103	3473	OMIM:608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35		78
HP:0003577	HP:0003577	Congenital onset	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0003577	HP:0003577	Congenital onset	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0003577	HP:0003577	Congenital onset	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0003577	HP:0003577	Congenital onset	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0003577	HP:0003577	Congenital onset	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0003577	HP:0003577	Congenital onset	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0003577	HP:0003577	Congenital onset	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0003577	HP:0003577	Congenital onset	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0003577	HP:0003577	Congenital onset	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0003577	HP:0003577	Congenital onset	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0003577	HP:0003577	Congenital onset	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0003577	HP:0003577	Congenital onset	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0003577	HP:0003577	Congenital onset	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0003577	HP:0003577	Congenital onset	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0003577	HP:0003577	Congenital onset	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0003577	HP:0003577	Congenital onset	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0003577	HP:0003577	Congenital onset	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0003577	HP:0003577	Congenital onset	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0003577	HP:0003577	Congenital onset	0	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0003577	HP:0003577	Congenital onset	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0003577	HP:0003577	Congenital onset	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0003577	HP:0003577	Congenital onset	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0003577	HP:0003577	Congenital onset	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0003577	HP:0003577	Congenital onset	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0003577	HP:0003577	Congenital onset	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0003577	HP:0003577	Congenital onset	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0003577	HP:0003577	Congenital onset	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0003577	HP:0003577	Congenital onset	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0003577	HP:0003577	Congenital onset	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003577	HP:0003577	Congenital onset	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0003577	HP:0003577	Congenital onset	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0003577	HP:0003577	Congenital onset	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0003577	HP:0003577	Congenital onset	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0003577	HP:0003577	Congenital onset	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0003577	HP:0003577	Congenital onset	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2		23
HP:0003577	HP:0003577	Congenital onset	0	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct		33
HP:0003577	HP:0003577	Congenital onset	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0003577	HP:0003577	Congenital onset	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0003577	HP:0003577	Congenital onset	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.	3
HP:0003577	HP:0003577	Congenital onset	0	FYCO1 CL E G H	79443	14673	OMIM:610019	Cataract, autosomal recessive congenital 2		140
HP:0003577	HP:0003577	Congenital onset	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0003577	HP:0003577	Congenital onset	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0003577	HP:0003577	Congenital onset	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0003577	HP:0003577	Congenital onset	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0003577	HP:0003577	Congenital onset	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1		87
HP:0003577	HP:0003577	Congenital onset	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5		10
HP:0003577	HP:0003577	Congenital onset	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0003577	HP:0003577	Congenital onset	0	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5		37
HP:0003577	HP:0003577	Congenital onset	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0003577	HP:0003577	Congenital onset	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0003577	HP:0003577	Congenital onset	0	GDF3 CL E G H	9573	4218	OMIM:613704	Microphthalmia, isolated 7		7
HP:0003577	HP:0003577	Congenital onset	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0003577	HP:0003577	Congenital onset	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0003577	HP:0003577	Congenital onset	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0003577	HP:0003577	Congenital onset	0	GFRA1 CL E G H	2674	4243	OMIM:619887			1
HP:0003577	HP:0003577	Congenital onset	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0003577	HP:0003577	Congenital onset	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0003577	HP:0003577	Congenital onset	0	GJA8 CL E G H	2703	4281	OMIM:116200	Cataract 1, multiple types		34
HP:0003577	HP:0003577	Congenital onset	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0003577	HP:0003577	Congenital onset	0	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0003577	HP:0003577	Congenital onset	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0003577	HP:0003577	Congenital onset	0	GLI1 CL E G H	2735	4317	OMIM:618123	POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8		1
HP:0003577	HP:0003577	Congenital onset	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2		46
HP:0003577	HP:0003577	Congenital onset	0	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71	.
HP:0003577	HP:0003577	Congenital onset	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0003577	HP:0003577	Congenital onset	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0003577	HP:0003577	Congenital onset	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0003577	HP:0003577	Congenital onset	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0003577	HP:0003577	Congenital onset	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0003577	HP:0003577	Congenital onset	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0003577	HP:0003577	Congenital onset	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0003577	HP:0003577	Congenital onset	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0003577	HP:0003577	Congenital onset	0	GPRASP2 CL E G H	114928	25169	OMIM:301018	Deafness, X-linked 7	.
HP:0003577	HP:0003577	Congenital onset	0	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0003577	HP:0003577	Congenital onset	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	.
HP:0003577	HP:0003577	Congenital onset	0	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2		12
HP:0003577	HP:0003577	Congenital onset	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0003577	HP:0003577	Congenital onset	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0003577	HP:0003577	Congenital onset	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0003577	HP:0003577	Congenital onset	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0003577	HP:0003577	Congenital onset	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0003577	HP:0003577	Congenital onset	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0003577	HP:0003577	Congenital onset	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0003577	HP:0003577	Congenital onset	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0003577	HP:0003577	Congenital onset	0	HBA1 CL E G H	3039	4823	OMIM:617973	METHEMOGLOBINEMIA, ALPHA TYPE		200
HP:0003577	HP:0003577	Congenital onset	0	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	.	50
HP:0003577	HP:0003577	Congenital onset	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0003577	HP:0003577	Congenital onset	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	.	185
HP:0003577	HP:0003577	Congenital onset	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0003577	HP:0003577	Congenital onset	0	HELLS CL E G H	3070	4861	OMIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	.	6
HP:0003577	HP:0003577	Congenital onset	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0003577	HP:0003577	Congenital onset	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0003577	HP:0003577	Congenital onset	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0003577	HP:0003577	Congenital onset	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0003577	HP:0003577	Congenital onset	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0003577	HP:0003577	Congenital onset	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003577	HP:0003577	Congenital onset	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0003577	HP:0003577	Congenital onset	0	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0003577	HP:0003577	Congenital onset	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0003577	HP:0003577	Congenital onset	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1		25
HP:0003577	HP:0003577	Congenital onset	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003577	HP:0003577	Congenital onset	0	HPGD CL E G H	3248	5154	OMIM:119900	DIGITAL CLUBBING, ISOLATED CONGENITAL		55
HP:0003577	HP:0003577	Congenital onset	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0003577	HP:0003577	Congenital onset	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0003577	HP:0003577	Congenital onset	0	HRURF CL E G H	120766137	55085	OMIM:146550	Marie unna hereditary hypotrichosis 1
HP:0003577	HP:0003577	Congenital onset	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003577	HP:0003577	Congenital onset	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0003577	HP:0003577	Congenital onset	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0003577	HP:0003577	Congenital onset	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0003577	HP:0003577	Congenital onset	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0003577	HP:0003577	Congenital onset	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0003577	HP:0003577	Congenital onset	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0003577	HP:0003577	Congenital onset	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0003577	HP:0003577	Congenital onset	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0003577	HP:0003577	Congenital onset	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0003577	HP:0003577	Congenital onset	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0003577	HP:0003577	Congenital onset	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly		4
HP:0003577	HP:0003577	Congenital onset	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0003577	HP:0003577	Congenital onset	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0003577	HP:0003577	Congenital onset	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.	91
HP:0003577	HP:0003577	Congenital onset	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0003577	HP:0003577	Congenital onset	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0003577	HP:0003577	Congenital onset	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0003577	HP:0003577	Congenital onset	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0003577	HP:0003577	Congenital onset	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0003577	HP:0003577	Congenital onset	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003577	HP:0003577	Congenital onset	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003577	HP:0003577	Congenital onset	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0003577	HP:0003577	Congenital onset	0	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0003577	HP:0003577	Congenital onset	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0003577	HP:0003577	Congenital onset	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0003577	HP:0003577	Congenital onset	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0003577	HP:0003577	Congenital onset	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency		127
HP:0003577	HP:0003577	Congenital onset	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0003577	HP:0003577	Congenital onset	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0003577	HP:0003577	Congenital onset	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0003577	HP:0003577	Congenital onset	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0003577	HP:0003577	Congenital onset	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.	177
HP:0003577	HP:0003577	Congenital onset	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0003577	HP:0003577	Congenital onset	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE		257
HP:0003577	HP:0003577	Congenital onset	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.	4
HP:0003577	HP:0003577	Congenital onset	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0003577	HP:0003577	Congenital onset	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2		26
HP:0003577	HP:0003577	Congenital onset	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0003577	HP:0003577	Congenital onset	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0003577	HP:0003577	Congenital onset	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0003577	HP:0003577	Congenital onset	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0003577	HP:0003577	Congenital onset	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0003577	HP:0003577	Congenital onset	0	KCNE1 CL E G H	3753	6240	OMIM:612347	Jervell and lange-nielsen syndrome 2		148
HP:0003577	HP:0003577	Congenital onset	0	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct		121
HP:0003577	HP:0003577	Congenital onset	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0003577	HP:0003577	Congenital onset	0	KCNQ1 CL E G H	3784	6294	OMIM:220400	Jervell and lange-nielsen syndrome 1		730
HP:0003577	HP:0003577	Congenital onset	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0003577	HP:0003577	Congenital onset	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0003577	HP:0003577	Congenital onset	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0003577	HP:0003577	Congenital onset	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0003577	HP:0003577	Congenital onset	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.	93
HP:0003577	HP:0003577	Congenital onset	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0003577	HP:0003577	Congenital onset	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0003577	HP:0003577	Congenital onset	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0003577	HP:0003577	Congenital onset	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.	42
HP:0003577	HP:0003577	Congenital onset	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0003577	HP:0003577	Congenital onset	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0003577	HP:0003577	Congenital onset	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0003577	HP:0003577	Congenital onset	0	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0003577	HP:0003577	Congenital onset	0	KRT14 CL E G H	3861	6416	OMIM:601001	Epidermolysis bullosa simplex, autosomal recessive 1	.	110
HP:0003577	HP:0003577	Congenital onset	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0003577	HP:0003577	Congenital onset	0	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0003577	HP:0003577	Congenital onset	0	KRT5 CL E G H	3852	6442	OMIM:619588	EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B		173
HP:0003577	HP:0003577	Congenital onset	0	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0003577	HP:0003577	Congenital onset	0	KRT5 CL E G H	3852	6442	OMIM:619599	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D		173
HP:0003577	HP:0003577	Congenital onset	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0003577	HP:0003577	Congenital onset	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0003577	HP:0003577	Congenital onset	0	KRT71 CL E G H	112802	28927	OMIM:615896	Hypotrichosis 13		1
HP:0003577	HP:0003577	Congenital onset	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type		5
HP:0003577	HP:0003577	Congenital onset	0	KRT74 CL E G H	121391	28929	OMIM:194300	Woolly hair, autosomal dominant		5
HP:0003577	HP:0003577	Congenital onset	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003577	HP:0003577	Congenital onset	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0003577	HP:0003577	Congenital onset	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient		411
HP:0003577	HP:0003577	Congenital onset	0	LAMA3 CL E G H	3909	6483	OMIM:619783	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE; JEB2A		116
HP:0003577	HP:0003577	Congenital onset	0	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0003577	HP:0003577	Congenital onset	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	116
HP:0003577	HP:0003577	Congenital onset	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0003577	HP:0003577	Congenital onset	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0003577	HP:0003577	Congenital onset	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	167
HP:0003577	HP:0003577	Congenital onset	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0003577	HP:0003577	Congenital onset	0	LAMC2 CL E G H	3918	6493	OMIM:619785	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A		135
HP:0003577	HP:0003577	Congenital onset	0	LAMC2 CL E G H	3918	6493	OMIM:619786	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B		135
HP:0003577	HP:0003577	Congenital onset	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.	135
HP:0003577	HP:0003577	Congenital onset	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0003577	HP:0003577	Congenital onset	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.	54
HP:0003577	HP:0003577	Congenital onset	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0003577	HP:0003577	Congenital onset	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive		13
HP:0003577	HP:0003577	Congenital onset	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0003577	HP:0003577	Congenital onset	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0003577	HP:0003577	Congenital onset	0	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0003577	HP:0003577	Congenital onset	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0003577	HP:0003577	Congenital onset	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0003577	HP:0003577	Congenital onset	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0003577	HP:0003577	Congenital onset	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8		8
HP:0003577	HP:0003577	Congenital onset	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0003577	HP:0003577	Congenital onset	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0003577	HP:0003577	Congenital onset	0	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17	.	124
HP:0003577	HP:0003577	Congenital onset	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0003577	HP:0003577	Congenital onset	0	LRTOMT CL E G H	220074	25033	OMIM:611451	Deafness, autosomal recessive 63	.	78
HP:0003577	HP:0003577	Congenital onset	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0003577	HP:0003577	Congenital onset	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0003577	HP:0003577	Congenital onset	0	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44		2
HP:0003577	HP:0003577	Congenital onset	0	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14		2
HP:0003577	HP:0003577	Congenital onset	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0003577	HP:0003577	Congenital onset	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0003577	HP:0003577	Congenital onset	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0003577	HP:0003577	Congenital onset	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0003577	HP:0003577	Congenital onset	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0003577	HP:0003577	Congenital onset	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0003577	HP:0003577	Congenital onset	0	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly		2
HP:0003577	HP:0003577	Congenital onset	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0003577	HP:0003577	Congenital onset	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0003577	HP:0003577	Congenital onset	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0003577	HP:0003577	Congenital onset	0	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi
HP:0003577	HP:0003577	Congenital onset	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.	25
HP:0003577	HP:0003577	Congenital onset	0	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49		61
HP:0003577	HP:0003577	Congenital onset	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0003577	HP:0003577	Congenital onset	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0003577	HP:0003577	Congenital onset	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1		94
HP:0003577	HP:0003577	Congenital onset	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0003577	HP:0003577	Congenital onset	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0003577	HP:0003577	Congenital onset	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0003577	HP:0003577	Congenital onset	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18		25
HP:0003577	HP:0003577	Congenital onset	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0003577	HP:0003577	Congenital onset	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0003577	HP:0003577	Congenital onset	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0003577	HP:0003577	Congenital onset	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0003577	HP:0003577	Congenital onset	0	MET CL E G H	4233	7029	OMIM:620019			375
HP:0003577	HP:0003577	Congenital onset	0	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to		375
HP:0003577	HP:0003577	Congenital onset	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0003577	HP:0003577	Congenital onset	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003577	HP:0003577	Congenital onset	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0003577	HP:0003577	Congenital onset	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0003577	HP:0003577	Congenital onset	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6		69
HP:0003577	HP:0003577	Congenital onset	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0003577	HP:0003577	Congenital onset	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003577	HP:0003577	Congenital onset	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0003577	HP:0003577	Congenital onset	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0003577	HP:0003577	Congenital onset	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0003577	HP:0003577	Congenital onset	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0003577	HP:0003577	Congenital onset	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.	6
HP:0003577	HP:0003577	Congenital onset	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0003577	HP:0003577	Congenital onset	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0003577	HP:0003577	Congenital onset	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0003577	HP:0003577	Congenital onset	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0003577	HP:0003577	Congenital onset	0	MSRB3 CL E G H	253827	27375	OMIM:613718	Deafness, autosomal recessive 74		16
HP:0003577	HP:0003577	Congenital onset	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0003577	HP:0003577	Congenital onset	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.	39
HP:0003577	HP:0003577	Congenital onset	0	MYBPC1 CL E G H	4604	7549	OMIM:614915	Lethal congenital contracture syndrome 4		66
HP:0003577	HP:0003577	Congenital onset	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0003577	HP:0003577	Congenital onset	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0003577	HP:0003577	Congenital onset	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0003577	HP:0003577	Congenital onset	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0003577	HP:0003577	Congenital onset	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0003577	HP:0003577	Congenital onset	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003577	HP:0003577	Congenital onset	0	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3		387
HP:0003577	HP:0003577	Congenital onset	0	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37		179
HP:0003577	HP:0003577	Congenital onset	0	MYO7A CL E G H	4647	7606	OMIM:600060	Deafness, neurosensory, autosomal recessive 2	.	516
HP:0003577	HP:0003577	Congenital onset	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0003577	HP:0003577	Congenital onset	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0003577	HP:0003577	Congenital onset	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0003577	HP:0003577	Congenital onset	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0003577	HP:0003577	Congenital onset	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0003577	HP:0003577	Congenital onset	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0003577	HP:0003577	Congenital onset	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0003577	HP:0003577	Congenital onset	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0003577	HP:0003577	Congenital onset	0	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0003577	HP:0003577	Congenital onset	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.	96
HP:0003577	HP:0003577	Congenital onset	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0003577	HP:0003577	Congenital onset	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.	19
HP:0003577	HP:0003577	Congenital onset	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0003577	HP:0003577	Congenital onset	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0003577	HP:0003577	Congenital onset	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0003577	HP:0003577	Congenital onset	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0003577	HP:0003577	Congenital onset	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.	3
HP:0003577	HP:0003577	Congenital onset	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21		1
HP:0003577	HP:0003577	Congenital onset	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0003577	HP:0003577	Congenital onset	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0003577	HP:0003577	Congenital onset	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.	30
HP:0003577	HP:0003577	Congenital onset	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0003577	HP:0003577	Congenital onset	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0003577	HP:0003577	Congenital onset	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0003577	HP:0003577	Congenital onset	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0003577	HP:0003577	Congenital onset	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.	51
HP:0003577	HP:0003577	Congenital onset	0	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3		90
HP:0003577	HP:0003577	Congenital onset	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0003577	HP:0003577	Congenital onset	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0003577	HP:0003577	Congenital onset	0	NOG CL E G H	9241	7866	OMIM:186570	Tarsal-Carpal coalition syndrome		22
HP:0003577	HP:0003577	Congenital onset	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0003577	HP:0003577	Congenital onset	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0003577	HP:0003577	Congenital onset	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0003577	HP:0003577	Congenital onset	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0003577	HP:0003577	Congenital onset	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0003577	HP:0003577	Congenital onset	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0003577	HP:0003577	Congenital onset	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0003577	HP:0003577	Congenital onset	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0003577	HP:0003577	Congenital onset	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0003577	HP:0003577	Congenital onset	0	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0003577	HP:0003577	Congenital onset	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0003577	HP:0003577	Congenital onset	0	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15		1
HP:0003577	HP:0003577	Congenital onset	0	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive	.
HP:0003577	HP:0003577	Congenital onset	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0003577	HP:0003577	Congenital onset	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.	1
HP:0003577	HP:0003577	Congenital onset	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0003577	HP:0003577	Congenital onset	0	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	.
HP:0003577	HP:0003577	Congenital onset	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0003577	HP:0003577	Congenital onset	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0003577	HP:0003577	Congenital onset	0	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series		5
HP:0003577	HP:0003577	Congenital onset	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0003577	HP:0003577	Congenital onset	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0003577	HP:0003577	Congenital onset	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0003577	HP:0003577	Congenital onset	0	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9		383
HP:0003577	HP:0003577	Congenital onset	0	OTOGL CL E G H	283310	26901	OMIM:614944	Deafness, autosomal recessive 84B		105
HP:0003577	HP:0003577	Congenital onset	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003577	HP:0003577	Congenital onset	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1		231
HP:0003577	HP:0003577	Congenital onset	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0003577	HP:0003577	Congenital onset	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0003577	HP:0003577	Congenital onset	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0003577	HP:0003577	Congenital onset	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0003577	HP:0003577	Congenital onset	0	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF		352
HP:0003577	HP:0003577	Congenital onset	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0003577	HP:0003577	Congenital onset	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0003577	HP:0003577	Congenital onset	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0003577	HP:0003577	Congenital onset	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0003577	HP:0003577	Congenital onset	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0003577	HP:0003577	Congenital onset	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0003577	HP:0003577	Congenital onset	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0003577	HP:0003577	Congenital onset	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0003577	HP:0003577	Congenital onset	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0003577	HP:0003577	Congenital onset	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0003577	HP:0003577	Congenital onset	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B		47
HP:0003577	HP:0003577	Congenital onset	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0003577	HP:0003577	Congenital onset	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0003577	HP:0003577	Congenital onset	0	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2		6
HP:0003577	HP:0003577	Congenital onset	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0003577	HP:0003577	Congenital onset	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0003577	HP:0003577	Congenital onset	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0003577	HP:0003577	Congenital onset	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0003577	HP:0003577	Congenital onset	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0003577	HP:0003577	Congenital onset	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0003577	HP:0003577	Congenital onset	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0003577	HP:0003577	Congenital onset	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi		162
HP:0003577	HP:0003577	Congenital onset	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0003577	HP:0003577	Congenital onset	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types		6
HP:0003577	HP:0003577	Congenital onset	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal		3
HP:0003577	HP:0003577	Congenital onset	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0003577	HP:0003577	Congenital onset	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0003577	HP:0003577	Congenital onset	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0003577	HP:0003577	Congenital onset	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0003577	HP:0003577	Congenital onset	0	PLCD1 CL E G H	5333	9060	OMIM:151600	Nail disorder, nonsyndromic congenital, 3		5
HP:0003577	HP:0003577	Congenital onset	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4
HP:0003577	HP:0003577	Congenital onset	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0003577	HP:0003577	Congenital onset	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0003577	HP:0003577	Congenital onset	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.	11
HP:0003577	HP:0003577	Congenital onset	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0003577	HP:0003577	Congenital onset	0	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0003577	HP:0003577	Congenital onset	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0003577	HP:0003577	Congenital onset	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0003577	HP:0003577	Congenital onset	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0003577	HP:0003577	Congenital onset	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0003577	HP:0003577	Congenital onset	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0003577	HP:0003577	Congenital onset	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0003577	HP:0003577	Congenital onset	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0003577	HP:0003577	Congenital onset	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0003577	HP:0003577	Congenital onset	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0003577	HP:0003577	Congenital onset	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0003577	HP:0003577	Congenital onset	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0003577	HP:0003577	Congenital onset	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0003577	HP:0003577	Congenital onset	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0003577	HP:0003577	Congenital onset	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0003577	HP:0003577	Congenital onset	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0003577	HP:0003577	Congenital onset	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0003577	HP:0003577	Congenital onset	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0003577	HP:0003577	Congenital onset	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0003577	HP:0003577	Congenital onset	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0003577	HP:0003577	Congenital onset	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0003577	HP:0003577	Congenital onset	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0003577	HP:0003577	Congenital onset	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0003577	HP:0003577	Congenital onset	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.	7
HP:0003577	HP:0003577	Congenital onset	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0003577	HP:0003577	Congenital onset	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0003577	HP:0003577	Congenital onset	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0003577	HP:0003577	Congenital onset	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0003577	HP:0003577	Congenital onset	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0003577	HP:0003577	Congenital onset	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0003577	HP:0003577	Congenital onset	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0003577	HP:0003577	Congenital onset	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0003577	HP:0003577	Congenital onset	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0003577	HP:0003577	Congenital onset	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0003577	HP:0003577	Congenital onset	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0003577	HP:0003577	Congenital onset	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0003577	HP:0003577	Congenital onset	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.	19
HP:0003577	HP:0003577	Congenital onset	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003577	HP:0003577	Congenital onset	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003577	HP:0003577	Congenital onset	0	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies		22
HP:0003577	HP:0003577	Congenital onset	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0003577	HP:0003577	Congenital onset	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003577	HP:0003577	Congenital onset	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0003577	HP:0003577	Congenital onset	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0003577	HP:0003577	Congenital onset	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0003577	HP:0003577	Congenital onset	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2		135
HP:0003577	HP:0003577	Congenital onset	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O		391
HP:0003577	HP:0003577	Congenital onset	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0003577	HP:0003577	Congenital onset	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.	73
HP:0003577	HP:0003577	Congenital onset	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0003577	HP:0003577	Congenital onset	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0003577	HP:0003577	Congenital onset	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003577	HP:0003577	Congenital onset	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0003577	HP:0003577	Congenital onset	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0003577	HP:0003577	Congenital onset	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W	.
HP:0003577	HP:0003577	Congenital onset	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0003577	HP:0003577	Congenital onset	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003577	HP:0003577	Congenital onset	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0003577	HP:0003577	Congenital onset	0	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104		1
HP:0003577	HP:0003577	Congenital onset	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0003577	HP:0003577	Congenital onset	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0003577	HP:0003577	Congenital onset	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0003577	HP:0003577	Congenital onset	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0003577	HP:0003577	Congenital onset	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0003577	HP:0003577	Congenital onset	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	.	90
HP:0003577	HP:0003577	Congenital onset	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003577	HP:0003577	Congenital onset	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0003577	HP:0003577	Congenital onset	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5		167
HP:0003577	HP:0003577	Congenital onset	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0003577	HP:0003577	Congenital onset	0	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9		26
HP:0003577	HP:0003577	Congenital onset	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0003577	HP:0003577	Congenital onset	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0003577	HP:0003577	Congenital onset	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0003577	HP:0003577	Congenital onset	0	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0003577	HP:0003577	Congenital onset	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32	.	5
HP:0003577	HP:0003577	Congenital onset	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0003577	HP:0003577	Congenital onset	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0003577	HP:0003577	Congenital onset	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0003577	HP:0003577	Congenital onset	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0003577	HP:0003577	Congenital onset	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0003577	HP:0003577	Congenital onset	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0003577	HP:0003577	Congenital onset	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0003577	HP:0003577	Congenital onset	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0003577	HP:0003577	Congenital onset	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0003577	HP:0003577	Congenital onset	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0003577	HP:0003577	Congenital onset	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII		19
HP:0003577	HP:0003577	Congenital onset	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0003577	HP:0003577	Congenital onset	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0003577	HP:0003577	Congenital onset	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0003577	HP:0003577	Congenital onset	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0003577	HP:0003577	Congenital onset	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0003577	HP:0003577	Congenital onset	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0003577	HP:0003577	Congenital onset	0	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0003577	HP:0003577	Congenital onset	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0003577	HP:0003577	Congenital onset	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0003577	HP:0003577	Congenital onset	0	SERPINE1 CL E G H	5054	8583	OMIM:613329	Plasminogen activator inhibitor-1 deficiency	.	39
HP:0003577	HP:0003577	Congenital onset	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0003577	HP:0003577	Congenital onset	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0003577	HP:0003577	Congenital onset	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0003577	HP:0003577	Congenital onset	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0003577	HP:0003577	Congenital onset	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003577	HP:0003577	Congenital onset	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0003577	HP:0003577	Congenital onset	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0003577	HP:0003577	Congenital onset	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0003577	HP:0003577	Congenital onset	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0003577	HP:0003577	Congenital onset	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0003577	HP:0003577	Congenital onset	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0003577	HP:0003577	Congenital onset	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0003577	HP:0003577	Congenital onset	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0003577	HP:0003577	Congenital onset	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	.	68
HP:0003577	HP:0003577	Congenital onset	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0003577	HP:0003577	Congenital onset	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0003577	HP:0003577	Congenital onset	0	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct		274
HP:0003577	HP:0003577	Congenital onset	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0003577	HP:0003577	Congenital onset	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures		2
HP:0003577	HP:0003577	Congenital onset	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003577	HP:0003577	Congenital onset	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.	11
HP:0003577	HP:0003577	Congenital onset	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0003577	HP:0003577	Congenital onset	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0003577	HP:0003577	Congenital onset	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.	4
HP:0003577	HP:0003577	Congenital onset	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0003577	HP:0003577	Congenital onset	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0003577	HP:0003577	Congenital onset	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0003577	HP:0003577	Congenital onset	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0003577	HP:0003577	Congenital onset	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0003577	HP:0003577	Congenital onset	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0003577	HP:0003577	Congenital onset	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0003577	HP:0003577	Congenital onset	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0003577	HP:0003577	Congenital onset	0	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D		19
HP:0003577	HP:0003577	Congenital onset	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003577	HP:0003577	Congenital onset	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003577	HP:0003577	Congenital onset	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0003577	HP:0003577	Congenital onset	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0003577	HP:0003577	Congenital onset	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0003577	HP:0003577	Congenital onset	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0003577	HP:0003577	Congenital onset	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome		19
HP:0003577	HP:0003577	Congenital onset	0	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0003577	HP:0003577	Congenital onset	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0003577	HP:0003577	Congenital onset	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0003577	HP:0003577	Congenital onset	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0003577	HP:0003577	Congenital onset	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0003577	HP:0003577	Congenital onset	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0003577	HP:0003577	Congenital onset	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0003577	HP:0003577	Congenital onset	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0003577	HP:0003577	Congenital onset	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.	12
HP:0003577	HP:0003577	Congenital onset	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0003577	HP:0003577	Congenital onset	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0003577	HP:0003577	Congenital onset	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0003577	HP:0003577	Congenital onset	0	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive	.	99
HP:0003577	HP:0003577	Congenital onset	0	STRC CL E G H	161497	16035	OMIM:611102	Deafness, sensorineural, and male infertility		78
HP:0003577	HP:0003577	Congenital onset	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0003577	HP:0003577	Congenital onset	0	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14		4
HP:0003577	HP:0003577	Congenital onset	0	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10		8
HP:0003577	HP:0003577	Congenital onset	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0003577	HP:0003577	Congenital onset	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0003577	HP:0003577	Congenital onset	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2		11
HP:0003577	HP:0003577	Congenital onset	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0003577	HP:0003577	Congenital onset	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.	28
HP:0003577	HP:0003577	Congenital onset	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0003577	HP:0003577	Congenital onset	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0003577	HP:0003577	Congenital onset	0	TBC1D24 CL E G H	57465	29203	OMIM:614617	Deafness, autosomal recessive 86		271
HP:0003577	HP:0003577	Congenital onset	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0003577	HP:0003577	Congenital onset	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0003577	HP:0003577	Congenital onset	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0003577	HP:0003577	Congenital onset	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	.	13
HP:0003577	HP:0003577	Congenital onset	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0003577	HP:0003577	Congenital onset	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5		19
HP:0003577	HP:0003577	Congenital onset	0	TBXT CL E G H	6862	11515	OMIM:615709	Sacral agenesis with vertebral anomalies	.
HP:0003577	HP:0003577	Congenital onset	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0003577	HP:0003577	Congenital onset	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0003577	HP:0003577	Congenital onset	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8		76
HP:0003577	HP:0003577	Congenital onset	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0003577	HP:0003577	Congenital onset	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.	12
HP:0003577	HP:0003577	Congenital onset	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0003577	HP:0003577	Congenital onset	0	TFAP2B CL E G H	7021	11743	OMIM:617035	Patent ductus arteriosus 2		104
HP:0003577	HP:0003577	Congenital onset	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1		98
HP:0003577	HP:0003577	Congenital onset	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0003577	HP:0003577	Congenital onset	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects		4
HP:0003577	HP:0003577	Congenital onset	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0003577	HP:0003577	Congenital onset	0	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7		109
HP:0003577	HP:0003577	Congenital onset	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0003577	HP:0003577	Congenital onset	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0003577	HP:0003577	Congenital onset	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI		4
HP:0003577	HP:0003577	Congenital onset	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0003577	HP:0003577	Congenital onset	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	.	33
HP:0003577	HP:0003577	Congenital onset	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0003577	HP:0003577	Congenital onset	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0003577	HP:0003577	Congenital onset	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0003577	HP:0003577	Congenital onset	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4		3
HP:0003577	HP:0003577	Congenital onset	0	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8		111
HP:0003577	HP:0003577	Congenital onset	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0003577	HP:0003577	Congenital onset	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0003577	HP:0003577	Congenital onset	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0003577	HP:0003577	Congenital onset	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0003577	HP:0003577	Congenital onset	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0003577	HP:0003577	Congenital onset	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0003577	HP:0003577	Congenital onset	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0003577	HP:0003577	Congenital onset	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0003577	HP:0003577	Congenital onset	0	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive	.
HP:0003577	HP:0003577	Congenital onset	0	TRIM32 CL E G H	22954	16380	OMIM:615988	Bardet-Biedl syndrome 11		108
HP:0003577	HP:0003577	Congenital onset	0	TRIM36 CL E G H	55521	16280	OMIM:206500	ANENCEPHALY; ANPH		1
HP:0003577	HP:0003577	Congenital onset	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.	4
HP:0003577	HP:0003577	Congenital onset	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1	.	4
HP:0003577	HP:0003577	Congenital onset	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1		7
HP:0003577	HP:0003577	Congenital onset	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.	3
HP:0003577	HP:0003577	Congenital onset	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0003577	HP:0003577	Congenital onset	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive		214
HP:0003577	HP:0003577	Congenital onset	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	.	3
HP:0003577	HP:0003577	Congenital onset	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0003577	HP:0003577	Congenital onset	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0003577	HP:0003577	Congenital onset	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.	102
HP:0003577	HP:0003577	Congenital onset	0	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5	.	102
HP:0003577	HP:0003577	Congenital onset	0	TSHR CL E G H	7253	12373	OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1		97
HP:0003577	HP:0003577	Congenital onset	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003577	HP:0003577	Congenital onset	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0003577	HP:0003577	Congenital onset	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0003577	HP:0003577	Congenital onset	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8		41
HP:0003577	HP:0003577	Congenital onset	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0003577	HP:0003577	Congenital onset	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	.	14
HP:0003577	HP:0003577	Congenital onset	0	TUBB1 CL E G H	81027	16257	OMIM:613112	Macrothrombocytopenia, autosomal dominant, tubb1-related		3
HP:0003577	HP:0003577	Congenital onset	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.	64
HP:0003577	HP:0003577	Congenital onset	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0003577	HP:0003577	Congenital onset	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.	14
HP:0003577	HP:0003577	Congenital onset	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.	61
HP:0003577	HP:0003577	Congenital onset	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0003577	HP:0003577	Congenital onset	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0003577	HP:0003577	Congenital onset	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0003577	HP:0003577	Congenital onset	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29	.	1
HP:0003577	HP:0003577	Congenital onset	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0003577	HP:0003577	Congenital onset	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0003577	HP:0003577	Congenital onset	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0003577	HP:0003577	Congenital onset	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0003577	HP:0003577	Congenital onset	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0003577	HP:0003577	Congenital onset	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0003577	HP:0003577	Congenital onset	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0003577	HP:0003577	Congenital onset	0	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I		73
HP:0003577	HP:0003577	Congenital onset	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003577	HP:0003577	Congenital onset	0	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9	.	6
HP:0003577	HP:0003577	Congenital onset	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0003577	HP:0003577	Congenital onset	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0003577	HP:0003577	Congenital onset	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0003577	HP:0003577	Congenital onset	0	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11		5
HP:0003577	HP:0003577	Congenital onset	0	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types	.	3
HP:0003577	HP:0003577	Congenital onset	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0003577	HP:0003577	Congenital onset	0	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0003577	HP:0003577	Congenital onset	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0003577	HP:0003577	Congenital onset	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003577	HP:0003577	Congenital onset	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0003577	HP:0003577	Congenital onset	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0003577	HP:0003577	Congenital onset	0	VSX2 CL E G H	338917	1975	OMIM:610093	MICROPHTHALMIA, ISOLATED 2; MCOP2		66
HP:0003577	HP:0003577	Congenital onset	0	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0003577	HP:0003577	Congenital onset	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly		60
HP:0003577	HP:0003577	Congenital onset	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0003577	HP:0003577	Congenital onset	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0003577	HP:0003577	Congenital onset	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0003577	HP:0003577	Congenital onset	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0003577	HP:0003577	Congenital onset	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0003577	HP:0003577	Congenital onset	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0003577	HP:0003577	Congenital onset	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0003577	HP:0003577	Congenital onset	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0003577	HP:0003577	Congenital onset	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003577	HP:0003577	Congenital onset	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0003577	HP:0003577	Congenital onset	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0003577	HP:0003577	Congenital onset	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0003577	HP:0003577	Congenital onset	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5
HP:0003577	HP:0003577	Congenital onset	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0003577	HP:0003577	Congenital onset	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0003577	HP:0003577	Congenital onset	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0003577	HP:0003577	Congenital onset	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0003577	HP:0003577	Congenital onset	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0003577	HP:0003577	Congenital onset	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0003577	HP:0003577	Congenital onset	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0003577	HP:0003577	Congenital onset	0	ZFPM2 CL E G H	23414	16700	OMIM:616067	46,xy sex reversal 9		31
HP:0003577	HP:0003577	Congenital onset	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0003577	HP:0003577	Congenital onset	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0003577	HP:0003577	Congenital onset	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0003577	HP:0003577	Congenital onset	0	ZNF141 CL E G H	7700	12926	OMIM:615226	Polydactyly, postaxial, type A6		3
HP:0003577	HP:0003577	Congenital onset	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0003577	HP:0003577	Congenital onset	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60

Genes (847) :AARS1 AARS2 ABCA12 ABCA3 ABCC9 ABCD4 ACAD9 ACKR3 ACP5 ACTA1 ACTA2 ACTB ACTG2 ACVR1 ACVR2B ADAMTS19 ADGRG1 AFF4 AGPAT2 AGTPBP1 AHDC1 ALDH1A3 ALDH3A2 ALG8 ALG9 ALOX12B ALOXE3 ALPK3 ALX4 AMH AMHR2 ANKS6 ANO1 ANOS1 AP1B1 AP1S1 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARCN1 ARHGEF2 ARHGEF9 ARL2 ARL6 ARMC9 ARX ASCC1 ASH1L ASPM ASXL1 ASXL2 ATAD1 ATCAY ATN1 ATOH7 ATP11C ATP1A3 ATP2A2 ATP2B1 ATP2B2 ATP2B3 ATP5F1A ATP6V0A2 ATP6V1B2 ATP8A2 ATPAF2 ATR AVPR2 B3GALNT2 BAP1 BBS1 BBS4 BBS9 BCL11A BCL11B BCS1L BHLHA9 BICD2 BIN1 BLM BLTP1 BMPR1B BRAF BRF1 BRPF1 BRWD3 BSCL2 BSND C18ORF32 C2CD3 C2ORF69 CA8 CABP2 CACNA1D CALM3 CAMK2B CAPN15 CASK CATSPER2 CAV1 CC2D2A CCDC103 CCDC28B CCDC32 CCDC39 CCDC88C CCND2 CD8A CDAN1 CDC14A CDC40 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH3 CDK10 CDK13 CDK5 CDK5RAP2 CDT1 CENPF CENPJ CEP135 CEP63 CERS3 CFAP410 CFAP45 CFAP53 CFC1 CFL2 CHAMP1 CHAT CHD7 CHKB CHMP1A CHRNA1 CHRNB1 CHRNE CHST14 CHST3 CHUK CIB2 CIROP CIT CLCN7 CLCNKA CLCNKB CLDN10 CLMP CLP1 CLPB CLRN1 CNOT1 CNTNAP1 COA5 COA6 COASY COG1 COG6 COL11A1 COL11A2 COL13A1 COL17A1 COL18A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A6 COL7A1 COPB2 COQ4 COQ7 COX5A COX6A2 COX7B CPLANE1 CRB2 CREB3L1 CREBBP CRELD1 CRIPT CRYAB CRYBA1 CSF1R CSPP1 CST6 CTCF CTSD CTU2 CWF19L1 CYP19A1 CYP2U1 CYP4F22 DBH DCC DCDC2 DCHS1 DCPS DCT DDX59 DHCR7 DHH DLL4 DLX5 DMXL2 DNAAF3 DNAH9 DNASE2 DNM2 DNMT3A DOHH DOLK DONSON DPAGT1 DPH1 DPH5 DPM2 DPP6 DPYD DSG4 DSP DSTYK DTNA DTYMK DVL1 DYNLT2B DYRK1A EBP ECE1 ECEL1 ECHS1 ECM1 EDN3 EDNRA EDNRB EED EEF1A2 EGR2 EIF3F EIF4A3 EIF5A ELN ELOVL4 ELP1 ELP2 ELP4 EN1 ENPP1 EOGT EP300 EPG5 EPS8 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERGIC1 ESRRB EXOC2 EXOC6B EXOC7 EXOSC3 EXOSC9 EXTL3 F13A1 F13B F2 FAM111A FAM20C FANCF FANCL FAT4 FBLN5 FBN2 FGA FGB FGF16 FGF3 FGFR1 FGFR2 FGFR3 FGG FIG4 FKRP FKTN FLNB FLT4 FOCAD FOXC1 FOXE3 FOXI1 FOXRED1 FTO FUT8 FYCO1 G6PD GATA1 GATA3 GATA4 GATA5 GATA6 GDAP1 GDF11 GDF3 GDF5 GEMIN5 GFM1 GFRA1 GGPS1 GJA1 GJA8 GJB2 GLE1 GLI1 GLRB GLS GMPPA GMPPB GORAB GP1BA GP1BB GP9 GPRASP2 GREB1L GRHL3 GSC GSX2 GTF2H5 GUF1 H1-4 H4C11 H4C3 HAAO HBA1 HBG2 HCCS HCN4 HDAC4 HELLS HEPACAM HERC1 HERC2 HIVEP2 HK1 HNRNPH1 HNRNPR HOXA2 HOXB1 HOXD13 HPDL HPGD HRAS HRURF HS2ST1 HSPG2 HYCC1 IARS1 IARS2 IBA57 IER3IP1 IFIH1 IFT122 IFT140 IFT172 IFT52 IFT74 IGBP1 IGF1 IGF1R IGHMBP2 IKBKG INPP5K INPPL1 IPO8 IPW IRF6 IRX5 ITGA3 ITGA6 ITGA7 ITGA8 ITGB4 ITPR1 JAG1 JAM3 JUP KANK1 KARS1 KAT5 KAT6A KATNB1 KATNIP KCNE1 KCNJ10 KCNK4 KCNQ1 KDM6A KDSR KIF15 KIF1A KIF5A KIF7 KIFBP KITLG KLF1 KLHL24 KMT2D KRAS KRT1 KRT14 KRT5 KRT71 KRT74 KY KYNU LAMA2 LAMA3 LAMA5 LAMB2 LAMB3 LAMC2 LARGE1 LARS2 LBR LFNG LIFR LIPH LMBR1 LMNA LMNB2 LMOD2 LPAR6 LRP2 LRP4 LRRC56 LRTOMT LSM11 LSS LTBP1 LZTFL1 MAB21L2 MAF MAGEL2 MAP3K20 MAP3K7 MAPKAPK5 MAPRE2 MARK3 MARS2 MARVELD2 MATN3 MBTPS2 MC2R MCM3AP MDFIC MECP2 MED23 MED25 MEGF10 MEGF8 MEIS2 MET MFSD2A MICOS13 MID1 MITF MKKS MKRN3 MKRN3-AS1 MKS1 MMP1 MNX1 MOGS MPC1 MPDZ MPZ MRPS16 MRPS22 MSRB3 MTMR14 MTO1 MYBPC1 MYCN MYH2 MYH7 MYH9 MYL1 MYL11 MYO15A MYO6 MYO7A MYO9A MYSM1 NAA10 NALCN NARS1 NBN NCAPG2 NCAPH NDE1 NDUFA2 NDUFA4 NDUFA6 NDUFAF4 NDUFB11 NECAP1 NECTIN1 NECTIN4 NEDD4L NEK8 NEK9 NF1 NIPAL4 NKX2-1 NKX2-5 NKX3-2 NODAL NOG NOTCH1 NPAP1 NPHP1 NPHP3 NPHS1 NR1H4 NRAS NRCAM NSDHL NUAK2 NUDT2 NUP155 NUP37 NUP88 NUS1 ODAD3 ODAD4 OFD1 OGDHL OPN1MW ORC1 ORC4 ORC6 OTOF OTOGL OTUD5 PAFAH1B1 PAX2 PAX6 PAX8 PC PCDH15 PCDHGC4 PCLO PDCD6IP PDE4D PDE6D PDHX PDX1 PEX12 PEX19 PEX26 PEX3 PEX5 PGAP2 PHOX2A PHOX2B PIEZO2 PIGF PIGN PIGO PIGT PIGY PIK3CA PITX1 PITX3 PKD1L1 PKHD1 PKLR PKP1 PLAA PLCD1 PLD1 PLEC PLK4 PMM2 PNPLA1 POGZ POLA1 POLE POLR1A POLR1D POLR3A POLR3B POMGNT1 POMK POMP POMT1 POMT2 PORCN PPFIBP1 PPP1CB PPP2R3C PPP3CA PRDM13 PREPL PRKACA PRKACB PRKAR1B PRPS1 PRR12 PRUNE1 PSAP PSAT1 PSMC3 PSMD12 PTCH1 PTRH2 PUF60 PWAR1 PWRN1 PXDN PYCR1 PYROXD1 QRICH1 RAB18 RAB3GAP1 RAB3GAP2 RAD51C RALA RAPSN RARS2 RBBP8 RBM8A RBPJ REEP1 RFWD3 RHOA RIPK4 RIPOR2 RMND1 RMRP RNF13 RNU4ATAC ROBO3 ROR2 RPA1 RPGRIP1L RPL10 RPS10 RPS26 RPS28 RRM2B RRP7A RSPH3 RSPO2 RUNX2 RUSC2 RYR1 SALL1 SALL4 SATB2 SCARF2 SCN11A SCN5A SCN8A SCN9A SCNM1 SDHB SEC23A SELENBP1 SELENON SERPINE1 SF3B2 SF3B4 SHMT2 SIAH1 SIK3 SIN3A SIX3 SIX6 SLC12A2 SLC16A2 SLC25A12 SLC25A19 SLC25A24 SLC25A4 SLC26A2 SLC26A4 SLC2A10 SLC35A3 SLC37A4 SLC39A8 SLC5A7 SLC6A6 SLC6A9 SMAD2 SMARCAL1 SMARCD2 SMC1A SMG9 SMO SNAI2 SNORD115-1 SNORD116-1 SOX10 SOX18 SOX2 SOX9 SPATA5 SPATA5L1 SPECC1L SPI1 SPRED2 SPTBN4 SRD5A3 SREBF1 SSR4 ST14 STAG1 STAMBP STIL STRC STS SULT2B1 SUMO1 SVIL SYT2 TAB2 TAF1 TARS2 TASP1 TBC1D20 TBC1D24 TBCD TBCE TBCK TBX3 TBX6 TBXT TCF12 TCOF1 TCTN2 TCTN3 TELO2 TFAM TFAP2B TGM1 THOC6 TKT TLK2 TMC1 TMCO1 TMEM106B TMEM107 TMEM216 TMEM231 TMEM67 TMEM70 TMEM94 TMEM98 TMPRSS3 TOE1 TP63 TPM1 TPM2 TPM3 TRAPPC12 TRAPPC14 TRIM32 TRIM36 TRIP4 TRMT10A TRMT10C TRPV4 TSEN15 TSEN2 TSEN54 TSHR TTC26 TTC5 TTC7A TTC8 TTN TUBB TUBB1 TUBB3 TUBB4B TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXN2 TXNDC15 TXNL4A TYMS TYR UBA2 UBE3B UBR7 UGT1A1 UNC45B UQCC3 UROS VANGL1 VARS1 VAX1 VIM VLDLR VPS33B VPS35L VRK1 VSX1 VSX2 WAS WDPCP WDR19 WDR35 WDR4 WDR62 WDR81 WLS WNT10A WNT5A WT1 XRCC2 XYLT2 YIF1B YRDC YY1 ZBTB20 ZBTB24 ZBTB7A ZC4H2 ZFPM2 ZFYVE19 ZIC3 ZMPSTE24 ZNF141 ZNF148 ZNF335

Diseases (881) :OMIM:616339 OMIM:614096 OMIM:601277 OMIM:610921 OMIM:619719 OMIM:614857 OMIM:611126 OMIM:619215 OMIM:607944 OMIM:255310 OMIM:613834 OMIM:607371 OMIM:619431 OMIM:135100 OMIM:613751 OMIM:620067 OMIM:606854 OMIM:616368 OMIM:608594 OMIM:618276 OMIM:615829 OMIM:615113 OMIM:270200 OMIM:608104 OMIM:263210 OMIM:242100 OMIM:606545 OMIM:618052 OMIM:613451 OMIM:609597 OMIM:261550 OMIM:615382 OMIM:620045 OMIM:308700 OMIM:242150 OMIM:609313 OMIM:608233 OMIM:617276 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 OMIM:617164 OMIM:617523 OMIM:300607 OMIM:619082 OMIM:209900 OMIM:600151 OMIM:617622 OMIM:308350 OMIM:616867 OMIM:617796 OMIM:608716 OMIM:605039 OMIM:617190 OMIM:618011 OMIM:601238 OMIM:618494 OMIM:221900 OMIM:301015 OMIM:619606 OMIM:101900 OMIM:619910 OMIM:619804 OMIM:302500 OMIM:616045 OMIM:615228 OMIM:278250 OMIM:124480 OMIM:615268 OMIM:604273 OMIM:614564 OMIM:304800 OMIM:615181 OMIM:619762 OMIM:615982 OMIM:615986 OMIM:617101 OMIM:617237 OMIM:124000 OMIM:607539 OMIM:618291 OMIM:255200 OMIM:210900 OMIM:617822 OMIM:616849 OMIM:115150 OMIM:616202 OMIM:617333 OMIM:300659 OMIM:269700 OMIM:602522 OMIM:619985 OMIM:615948 OMIM:619423 OMIM:613227 OMIM:614899 OMIM:615474 OMIM:614896 OMIM:618782 OMIM:617799 OMIM:619318 OMIM:300908 OMIM:611102 OMIM:606721 OMIM:619111 OMIM:619845 OMIM:614679 OMIM:619123 OMIM:613807 OMIM:236600 OMIM:615938 OMIM:608957 OMIM:224120 OMIM:608653 OMIM:619302 OMIM:619841 OMIM:617063 OMIM:613805 OMIM:616910 OMIM:211380 OMIM:619736 OMIM:225280 OMIM:617694 OMIM:617360 OMIM:616342 OMIM:604804 OMIM:613804 OMIM:243605 OMIM:608393 OMIM:614673 OMIM:614728 OMIM:615023 OMIM:602271 OMIM:619608 OMIM:614779 OMIM:605376 OMIM:610687 OMIM:616579 OMIM:254210 OMIM:214800 OMIM:602541 OMIM:614961 OMIM:608930 OMIM:616313 OMIM:616314 OMIM:605809 OMIM:601776 OMIM:143095 OMIM:619339 OMIM:614869 OMIM:619702 OMIM:617090 OMIM:618541 OMIM:613090 OMIM:617671 OMIM:615237 OMIM:615803 OMIM:616271 OMIM:619813 OMIM:276902 OMIM:618500 OMIM:618186 OMIM:616500 OMIM:616501 OMIM:618266 OMIM:611209 OMIM:614576 OMIM:615328 OMIM:228520 OMIM:614524 OMIM:215150 OMIM:616720 OMIM:619787 OMIM:267750 OMIM:619120 OMIM:617821 OMIM:616219 OMIM:156550 OMIM:151210 OMIM:618343 OMIM:175780 OMIM:300914 OMIM:131750 OMIM:226600 OMIM:132000 OMIM:617800 OMIM:616276 OMIM:616733 OMIM:619064 OMIM:619062 OMIM:309801 OMIM:277170 OMIM:219730 OMIM:616229 OMIM:180849 OMIM:606217 OMIM:615789 OMIM:613763 OMIM:600881 OMIM:618476 OMIM:615636 OMIM:618535 OMIM:615502 OMIM:610127 OMIM:618142 OMIM:616127 OMIM:613546 OMIM:615030 OMIM:604777 OMIM:223360 OMIM:617542 OMIM:610212 OMIM:601390 OMIM:616459 OMIM:619165 OMIM:174300 OMIM:270400 OMIM:607080 OMIM:616589 OMIM:220600 OMIM:618663 OMIM:606763 OMIM:618300 OMIM:619858 OMIM:615368 OMIM:160150 OMIM:615879 OMIM:620066 OMIM:610768 OMIM:617604 OMIM:608093 OMIM:616901 OMIM:620070 OMIM:615042 OMIM:616311 OMIM:274270 OMIM:607903 OMIM:607655 OMIM:610805 OMIM:604169 OMIM:619847 OMIM:180700 OMIM:616331 OMIM:617405 OMIM:614104 OMIM:302960 OMIM:613870 OMIM:615065 OMIM:616277 OMIM:247100 OMIM:613712 OMIM:616367 OMIM:600501 OMIM:600155 OMIM:617561 OMIM:616393 OMIM:605253 OMIM:618295 OMIM:268305 OMIM:619376 OMIM:123700 OMIM:614457 OMIM:223900 OMIM:617270 OMIM:617141 OMIM:619218 OMIM:208000 OMIM:615522 OMIM:615297 OMIM:613684 OMIM:242840 OMIM:615974 OMIM:610758 OMIM:610756 OMIM:616390 OMIM:615272 OMIM:214150 OMIM:133540 OMIM:208100 OMIM:608565 OMIM:619306 OMIM:618395 OMIM:619072 OMIM:614678 OMIM:618065 OMIM:617425 OMIM:613225 OMIM:613235 OMIM:613679 OMIM:602361 OMIM:259775 OMIM:603467 OMIM:614083 OMIM:615546 OMIM:219100 OMIM:121050 OMIM:202400 OMIM:309630 OMIM:610706 OMIM:190440 OMIM:101200 OMIM:100800 OMIM:187600 OMIM:216340 OMIM:236670 OMIM:613153 OMIM:606612 OMIM:108720 OMIM:153100 OMIM:619991 OMIM:601631 OMIM:610256 OMIM:600791 OMIM:618241 OMIM:612938 OMIM:618005 OMIM:610019 OMIM:190685 OMIM:146255 OMIM:607941 OMIM:614429 OMIM:617912 OMIM:614475 OMIM:614474 OMIM:607706 OMIM:619122 OMIM:613704 OMIM:200700 OMIM:619333 OMIM:609060 OMIM:619887 OMIM:619518 OMIM:104100 OMIM:116200 OMIM:602540 OMIM:149200 OMIM:611890 OMIM:618123 OMIM:614619 OMIM:618328 OMIM:615510 OMIM:615350 OMIM:615351 OMIM:615352 OMIM:231070 OMIM:231200 OMIM:301018 OMIM:619274 OMIM:617805 OMIM:606713 OMIM:602471 OMIM:618646 OMIM:616395 OMIM:617065 OMIM:617537 OMIM:619759 OMIM:619758 OMIM:617660 OMIM:617973 OMIM:613977 OMIM:163800 OMIM:600430 OMIM:616911 OMIM:613925 OMIM:617011 OMIM:176270 OMIM:616977 OMIM:235700 OMIM:620083 OMIM:620073 OMIM:612290 OMIM:614744 OMIM:186000 OMIM:619026 OMIM:119900 OMIM:259100 OMIM:137550 OMIM:146550 OMIM:619194 OMIM:255800 OMIM:610532 OMIM:617093 OMIM:616007 OMIM:615330 OMIM:614231 OMIM:615846 OMIM:218330 OMIM:266920 OMIM:619471 OMIM:617102 OMIM:619582 OMIM:300472 OMIM:608747 OMIM:270450 OMIM:604320 OMIM:308300 OMIM:617404 OMIM:258480 OMIM:619472 OMIM:119500 OMIM:119300 OMIM:611174 OMIM:614748 OMIM:619817 OMIM:613204 OMIM:191830 OMIM:619816 OMIM:226730 OMIM:206700 OMIM:117360 OMIM:619574 OMIM:617992 OMIM:613730 OMIM:601214 OMIM:612900 OMIM:619147 OMIM:619103 OMIM:616268 OMIM:616212 OMIM:616784 OMIM:612347 OMIM:618381 OMIM:220400 OMIM:147920 OMIM:617526 OMIM:619981 OMIM:614213 OMIM:617235 OMIM:607131 OMIM:609460 OMIM:619947 OMIM:613673 OMIM:617294 OMIM:609942 OMIM:600962 OMIM:601001 OMIM:131760 OMIM:619555 OMIM:619588 OMIM:619594 OMIM:619599 OMIM:131960 OMIM:615896 OMIM:614929 OMIM:194300 OMIM:617114 OMIM:617661 OMIM:607855 OMIM:619783 OMIM:619784 OMIM:226700 OMIM:620076 OMIM:609049 OMIM:226650 OMIM:619785 OMIM:619786 OMIM:617021 OMIM:618019 OMIM:609813 OMIM:601559 OMIM:604379 OMIM:188740 OMIM:619793 OMIM:619180 OMIM:619897 OMIM:278150 OMIM:222448 OMIM:212780 OMIM:616304 OMIM:618254 OMIM:611451 OMIM:619486 OMIM:618840 OMIM:616509 OMIM:618275 OMIM:619451 OMIM:615994 OMIM:615877 OMIM:610202 OMIM:615547 OMIM:616890 OMIM:157800 OMIM:619869 OMIM:616734 OMIM:618283 OMIM:616430 OMIM:610153 OMIM:608728 OMIM:308205 OMIM:202200 OMIM:618124 OMIM:620014 OMIM:300673 OMIM:614249 OMIM:616449 OMIM:614399 OMIM:614976 OMIM:600987 OMIM:620019 OMIM:607278 OMIM:616486 OMIM:618329 OMIM:300000 OMIM:193510 OMIM:605231 OMIM:617121 OMIM:176450 OMIM:606056 OMIM:614741 OMIM:615219 OMIM:618184 OMIM:610498 OMIM:611719 OMIM:613718 OMIM:614702 OMIM:614915 OMIM:164280 OMIM:605637 OMIM:155100 OMIM:618414 OMIM:619110 OMIM:600316 OMIM:607821 OMIM:600060 OMIM:618198 OMIM:618116 OMIM:300855 OMIM:616266 OMIM:619091 OMIM:619092 OMIM:251260 OMIM:618460 OMIM:617985 OMIM:614019 OMIM:605013 OMIM:618235 OMIM:619065 OMIM:618253 OMIM:618237 OMIM:301021 OMIM:615833 OMIM:225060 OMIM:613573 OMIM:617201 OMIM:615415 OMIM:614262 OMIM:193520 OMIM:612281 OMIM:610978 OMIM:614432 OMIM:613330 OMIM:270100 OMIM:186570 OMIM:616028 OMIM:609583 OMIM:208540 OMIM:256300 OMIM:617049 OMIM:619833 OMIM:308050 OMIM:619452 OMIM:619844 OMIM:615770 OMIM:618179 OMIM:618393 OMIM:617082 OMIM:616037 OMIM:617092 OMIM:311200 OMIM:619701 OMIM:303800 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:601071 OMIM:614944 OMIM:301056 OMIM:607432 OMIM:120330 OMIM:106210 OMIM:218700 OMIM:266150 OMIM:602083 OMIM:619880 OMIM:608027 OMIM:620047 OMIM:614613 OMIM:615665 OMIM:245349 OMIM:260370 OMIM:266510 OMIM:614886 OMIM:614872 OMIM:617370 OMIM:616716 OMIM:614207 OMIM:602078 OMIM:209880 OMIM:248700 OMIM:619356 OMIM:614080 OMIM:614749 OMIM:615398 OMIM:616809 OMIM:612918 OMIM:119800 OMIM:610623 OMIM:617205 OMIM:263200 OMIM:266200 OMIM:604536 OMIM:617527 OMIM:151600 OMIM:212093 OMIM:226670 OMIM:616171 OMIM:212065 OMIM:615024 OMIM:616364 OMIM:301030 OMIM:615139 OMIM:616462 OMIM:613717 OMIM:607694 OMIM:264090 OMIM:614381 OMIM:253280 OMIM:613151 OMIM:615249 OMIM:618048 OMIM:613150 OMIM:305600 OMIM:620024 OMIM:617506 OMIM:618419 OMIM:617711 OMIM:619909 OMIM:616224 OMIM:619142 OMIM:619143 OMIM:619680 OMIM:300661 OMIM:619539 OMIM:617481 OMIM:611721 OMIM:616038 OMIM:619354 OMIM:617516 OMIM:610828 OMIM:616263 OMIM:615583 OMIM:269400 OMIM:614438 OMIM:617258 OMIM:617982 OMIM:614222 OMIM:619420 OMIM:614225 OMIM:613390 OMIM:619311 OMIM:616326 OMIM:611523 OMIM:251255 OMIM:274000 OMIM:614814 OMIM:620011 OMIM:617784 OMIM:618727 OMIM:263650 OMIM:607017 OMIM:616515 OMIM:614922 OMIM:607095 OMIM:250250 OMIM:618379 OMIM:210710 OMIM:607313 OMIM:268310 OMIM:619767 OMIM:611561 OMIM:300998 OMIM:613308 OMIM:613309 OMIM:606164 OMIM:612075 OMIM:619453 OMIM:616481 OMIM:618021 OMIM:119600 OMIM:617773 OMIM:255320 OMIM:107480 OMIM:607323 OMIM:147750 OMIM:612313 OMIM:600920 OMIM:615548 OMIM:608567 OMIM:614558 OMIM:243000 OMIM:620107 OMIM:619224 OMIM:607812 OMIM:618148 OMIM:602771 OMIM:613329 OMIM:164210 OMIM:154400 OMIM:619121 OMIM:619314 OMIM:618162 OMIM:613406 OMIM:157170 OMIM:206900 OMIM:619080 OMIM:300523 OMIM:612949 OMIM:607196 OMIM:612289 OMIM:617184 OMIM:600972 OMIM:222600 OMIM:208050 OMIM:615553 OMIM:619525 OMIM:616721 OMIM:617143 OMIM:145350 OMIM:617301 OMIM:619657 OMIM:242900 OMIM:617475 OMIM:301044 OMIM:619995 OMIM:616920 OMIM:601707 OMIM:241800 OMIM:608890 OMIM:611584 OMIM:137940 OMIM:114290 OMIM:616577 OMIM:619615 OMIM:600251 OMIM:145420 OMIM:619707 OMIM:619745 OMIM:617519 OMIM:612379 OMIM:158310 OMIM:300934 OMIM:602400 OMIM:617635 OMIM:614261 OMIM:612703 OMIM:308100 OMIM:617571 OMIM:613705 OMIM:619040 OMIM:619461 OMIM:614980 OMIM:300966 OMIM:615918 OMIM:618950 OMIM:615663 OMIM:614617 OMIM:220500 OMIM:617193 OMIM:617207 OMIM:616900 OMIM:181450 OMIM:122600 OMIM:615709 OMIM:619718 OMIM:154500 OMIM:613885 OMIM:614815 OMIM:616954 OMIM:617156 OMIM:617035 OMIM:242300 OMIM:613680 OMIM:617044 OMIM:618050 OMIM:600974 OMIM:213980 OMIM:617964 OMIM:617563 OMIM:603194 OMIM:614970 OMIM:216360 OMIM:614052 OMIM:618316 OMIM:615972 OMIM:601072 OMIM:614969 OMIM:106260 OMIM:604292 OMIM:611878 OMIM:609285 OMIM:617669 OMIM:618351 OMIM:615988 OMIM:206500 OMIM:617066 OMIM:616866 OMIM:616033 OMIM:616974 OMIM:606071 OMIM:600175 OMIM:617026 OMIM:612389 OMIM:277470 OMIM:225753 OMIM:610204 OMIM:275200 OMIM:619534 OMIM:619244 OMIM:243150 OMIM:615985 OMIM:611705 OMIM:615771 OMIM:613112 OMIM:614039 OMIM:617879 OMIM:616335 OMIM:251270 OMIM:123100 OMIM:200110 OMIM:209885 OMIM:616811 OMIM:619879 OMIM:608572 OMIM:620040 OMIM:203100 OMIM:619959 OMIM:244450 OMIM:619189 OMIM:218800 OMIM:619178 OMIM:616111 OMIM:263700 OMIM:600145 OMIM:617802 OMIM:614402 OMIM:116300 OMIM:224050 OMIM:620009 OMIM:208085 OMIM:619135 OMIM:607596 OMIM:614195 OMIM:610093 OMIM:300299 OMIM:217085 OMIM:614378 OMIM:614376 OMIM:613610 OMIM:618346 OMIM:604317 OMIM:617967 OMIM:619648 OMIM:257980 OMIM:608978 OMIM:617247 OMIM:605822 OMIM:619125 OMIM:619609 OMIM:617557 OMIM:259050 OMIM:614069 OMIM:619769 OMIM:314580 OMIM:616067 OMIM:619849 OMIM:306955 OMIM:275210 OMIM:615226 OMIM:617260 OMIM:615095

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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