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