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:

Intrauterine onset; Onset at birth; Onset in utero; Prenatal onset; 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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003577	HP:0003577	Congenital onset	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0003577	HP:0003577	Congenital onset	0	ABCA3 CL E G H	21	610921	Surfactant metabolism dysfunction, pulmonary, 3	610921	C1970456	OMIM	1	788	33	601615
HP:0003577	HP:0003577	Congenital onset	0	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0003577	HP:0003577	Congenital onset	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0003577	HP:0003577	Congenital onset	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	366	17869	604417
HP:0003577	HP:0003577	Congenital onset	0	ALG9 CL E G H	79796	263210	Gillessen-Kaesbach-Nishimura syndrome	263210	C1849762	OMIM	1	312	15672	606941
HP:0003577	HP:0003577	Congenital onset	0	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0003577	HP:0003577	Congenital onset	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	677	566	603401
HP:0003577	HP:0003577	Congenital onset	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	403	572	607245
HP:0003577	HP:0003577	Congenital onset	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	509	573	607244
HP:0003577	HP:0003577	Congenital onset	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	429	574	602296
HP:0003577	HP:0003577	Congenital onset	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	148	575	607243
HP:0003577	HP:0003577	Congenital onset	0	ARHGEF9 CL E G H	23229	300607	Early infantile epileptic encephalopathy 8	300607	C1845102	OMIM	1	509	14561	300429
HP:0003577	HP:0003577	Congenital onset	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0003577	HP:0003577	Congenital onset	0	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1	165	24268	614215
HP:0003577	HP:0003577	Congenital onset	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	1597	19048	605481
HP:0003577	HP:0003577	Congenital onset	0	ATAD1 CL E G H	84896	618011	HYPEREKPLEXIA 4	618011	CN248518	OMIM	1	183	25903	614452
HP:0003577	HP:0003577	Congenital onset	0	ATP11C CL E G H	286410	301015	HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED	301015	CN253426	OMIM	1	247	13554	300516
HP:0003577	HP:0003577	Congenital onset	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	352	816	300014
HP:0003577	HP:0003577	Congenital onset	0	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1	209	823	164360
HP:0003577	HP:0003577	Congenital onset	0	ATP5F1A CL E G H	498	615228	Mitochondrial complex v (atp synthase) deficiency, nuclear type 4	615228	C3808899	OMIM	1	209	823	164360
HP:0003577	HP:0003577	Congenital onset	0	ATP6V1B2 CL E G H	526	124480	Deafness, congenital, with onychodystrophy, autosomal dominant	124480	C2675730	OMIM	1	167	854	606939
HP:0003577	HP:0003577	Congenital onset	0	ATP8A2 CL E G H	51761	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	615268	C3808977	OMIM	1	444	13533	605870
HP:0003577	HP:0003577	Congenital onset	0	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	205	15685	605517
HP:0003577	HP:0003577	Congenital onset	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	209	13221	606557
HP:0003577	HP:0003577	Congenital onset	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	525	13222	606558
HP:0003577	HP:0003577	Congenital onset	0	BICD2 CL E G H	23299	618291	618291	618291		OMIM	1	740	17208	609797
HP:0003577	HP:0003577	Congenital onset	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0003577	HP:0003577	Congenital onset	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0003577	HP:0003577	Congenital onset	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	510	15832	606158
HP:0003577	HP:0003577	Congenital onset	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	303	16512	606412
HP:0003577	HP:0003577	Congenital onset	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1	791	24564	615944
HP:0003577	HP:0003577	Congenital onset	0	CA8 CL E G H	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	613227	C2750509	OMIM	1	94	1382	114815
HP:0003577	HP:0003577	Congenital onset	0	CCDC103 CL E G H	388389	614679	Ciliary dyskinesia, primary, 17	614679	C3542550	OMIM	1	145	32700	614677
HP:0003577	HP:0003577	Congenital onset	0	CCDC88C CL E G H	440193	236600	Congenital hydrocephalus 1	236600	C3887608	OMIM	1	586	19967	611204
HP:0003577	HP:0003577	Congenital onset	0	CCND2 CL E G H	894	615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	615938	C4014742	OMIM	1	156	1583	123833
HP:0003577	HP:0003577	Congenital onset	0	CD8A CL E G H	925	608957	Cd8 deficiency, familial	608957	C1837065	OMIM	1	177	1706	186910
HP:0003577	HP:0003577	Congenital onset	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	117	1774	123831
HP:0003577	HP:0003577	Congenital onset	0	CDSN CL E G H	1041	270300	Peeling skin syndrome	270300	C1849193	OMIM	1	121	1802	602593
HP:0003577	HP:0003577	Congenital onset	0	CENPF CL E G H	1063	243605	Stromme syndrome	243605	C1855705	OMIM	1	554	1857	600236
HP:0003577	HP:0003577	Congenital onset	0	CENPJ CL E G H	55835	608393	Primary autosomal recessive microcephaly 6	608393	C1842109	OMIM	1	574	17272	609279
HP:0003577	HP:0003577	Congenital onset	0	CEP135 CL E G H	9662	614673	Primary autosomal recessive microcephaly 8	614673	C3553414	OMIM	1	390	29086	611423
HP:0003577	HP:0003577	Congenital onset	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	287	20311	616327
HP:0003577	HP:0003577	Congenital onset	0	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0003577	HP:0003577	Congenital onset	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0003577	HP:0003577	Congenital onset	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0003577	HP:0003577	Congenital onset	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003577	HP:0003577	Congenital onset	0	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0003577	HP:0003577	Congenital onset	0	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0003577	HP:0003577	Congenital onset	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003577	HP:0003577	Congenital onset	0	CIB2 CL E G H	10518	614869	Usher syndrome, type 1J	614869	C3553944	OMIM	1	227	24579	605564
HP:0003577	HP:0003577	Congenital onset	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	514	1985	605629
HP:0003577	HP:0003577	Congenital onset	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	230	2026	602024
HP:0003577	HP:0003577	Congenital onset	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	478	2027	602023
HP:0003577	HP:0003577	Congenital onset	0	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0003577	HP:0003577	Congenital onset	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0003577	HP:0003577	Congenital onset	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0003577	HP:0003577	Congenital onset	0	COA5 CL E G H	493753	616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	616500	C4225154	OMIM	1	41	33848	613920
HP:0003577	HP:0003577	Congenital onset	0	COASY CL E G H	80347	618266	618266	618266		OMIM	1	281	29932	609855
HP:0003577	HP:0003577	Congenital onset	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	366	18621	606977
HP:0003577	HP:0003577	Congenital onset	0	COG6 CL E G H	57511	615328	Shaheen syndrome	615328	C3809160	OMIM	1	366	18621	606977
HP:0003577	HP:0003577	Congenital onset	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0003577	HP:0003577	Congenital onset	0	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0003577	HP:0003577	Congenital onset	0	COL7A1 CL E G H	1294	131750	Generalized dominant dystrophic epidermolysis bullosa	131750	C0432322	OMIM	1	3777	2214	120120
HP:0003577	HP:0003577	Congenital onset	0	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0003577	HP:0003577	Congenital onset	0	COL7A1 CL E G H	1294	131705	Transient bullous dermolysis of the newborn	131705	C1851573	OMIM	1	3777	2214	120120
HP:0003577	HP:0003577	Congenital onset	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	203	2244	601683
HP:0003577	HP:0003577	Congenital onset	0	CRB2 CL E G H	286204	219730	Ventriculomegaly with cystic kidney disease	219730	C1857423	OMIM	1	585	18688	609720
HP:0003577	HP:0003577	Congenital onset	0	CREB3L1 CL E G H	90993	616229	Osteogenesis imperfecta, type xvi	616229	C4015610	OMIM	1	265	18856	616215
HP:0003577	HP:0003577	Congenital onset	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0003577	HP:0003577	Congenital onset	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	669	2529	116840
HP:0003577	HP:0003577	Congenital onset	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0003577	HP:0003577	Congenital onset	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	130	29812	610534
HP:0003577	HP:0003577	Congenital onset	0	DNAAF3 CL E G H	352909	606763	Ciliary dyskinesia, primary, 2	606763	C1847554	OMIM	1	393	30492	614566
HP:0003577	HP:0003577	Congenital onset	0	DNAL1 CL E G H	83544	614017	Ciliary dyskinesia, primary, 16	614017	C3151460	OMIM	1	124	23247	610062
HP:0003577	HP:0003577	Congenital onset	0	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	1088	2974	602378
HP:0003577	HP:0003577	Congenital onset	0	DOCK2 CL E G H	1794	616433	Immunodeficiency 40	616433	C4225328	OMIM	1	884	2988	603122
HP:0003577	HP:0003577	Congenital onset	0	DONSON CL E G H	29980	617604	MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES	617604	C4539873	OMIM	1	249	2993	611428
HP:0003577	HP:0003577	Congenital onset	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	312	2995	191350
HP:0003577	HP:0003577	Congenital onset	0	DPH1 CL E G H	1801	616901	Developmental delay with short stature, dysmorphic features, and sparse hair	616901	C4310801	OMIM	1	162	3003	603527
HP:0003577	HP:0003577	Congenital onset	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	156	3006	603564
HP:0003577	HP:0003577	Congenital onset	0	DSTYK CL E G H	25778	610805	Congenital anomalies of kidney and urinary tract 1, susceptibility to	610805	C1835826	OMIM	1	171	29043	612666
HP:0003577	HP:0003577	Congenital onset	0	DVL1 CL E G H	1855	616331	Robinow syndrome, autosomal dominant 2	616331	C4225363	OMIM	1	666	3084	601365
HP:0003577	HP:0003577	Congenital onset	0	EBP CL E G H	10682	302960	Chondrodysplasia punctata 2 X-linked dominant	302960	C0282102	OMIM	1	317	3133	300205
HP:0003577	HP:0003577	Congenital onset	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0003577	HP:0003577	Congenital onset	0	EGR2 CL E G H	1959	605253	Congenital hypomyelinating neuropathy	605253	C0393818	OMIM	1	373	3239	129010
HP:0003577	HP:0003577	Congenital onset	0	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0003577	HP:0003577	Congenital onset	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0003577	HP:0003577	Congenital onset	0	ELP2 CL E G H	55250	617270	Mental retardation, autosomal recessive 58	617270	C4310641	OMIM	1	166	18248	616054
HP:0003577	HP:0003577	Congenital onset	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	1266	3373	602700
HP:0003577	HP:0003577	Congenital onset	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0003577	HP:0003577	Congenital onset	0	EPS8 CL E G H	2059	615974	Deafness, autosomal recessive 102	615974	C3892050	OMIM	1	287	3420	600206
HP:0003577	HP:0003577	Congenital onset	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	161	3433	126380
HP:0003577	HP:0003577	Congenital onset	0	ERGIC1 CL E G H	57222	208100	Arthrogryposis multiplex congenita neurogenic type	208100	C1859721	OMIM	1	39	29205	617946
HP:0003577	HP:0003577	Congenital onset	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0003577	HP:0003577	Congenital onset	0	F13A1 CL E G H	2162	613225	Factor XIII subunit A deficiency	613225	C2750514	OMIM	1	241	3531	134570
HP:0003577	HP:0003577	Congenital onset	0	F13B CL E G H	2165	613235	Factor XIII subunit B deficiency	613235	C2750481	OMIM	1	138	3534	134580
HP:0003577	HP:0003577	Congenital onset	0	F2 CL E G H	2147	613679	Prothrombin deficiency, congenital	613679	C0020640	OMIM	1	165	3535	176930
HP:0003577	HP:0003577	Congenital onset	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0003577	HP:0003577	Congenital onset	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0003577	HP:0003577	Congenital onset	0	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	950	17997	606596
HP:0003577	HP:0003577	Congenital onset	0	FLT4 CL E G H	2324	153100	Hereditary lymphedema type I	153100	C1704423	OMIM	1	363	3767	136352
HP:0003577	HP:0003577	Congenital onset	0	FUT8 CL E G H	2530	618005	CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION	618005	CN248517	OMIM	1	108	4019	602589
HP:0003577	HP:0003577	Congenital onset	0	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	650	13780	606639
HP:0003577	HP:0003577	Congenital onset	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	364	22932	615320
HP:0003577	HP:0003577	Congenital onset	0	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0003577	HP:0003577	Congenital onset	0	GREB1L CL E G H	80000	617805	RENAL HYPODYSPLASIA/APLASIA 3	617805	C4540497	OMIM	1	263	31042	617782
HP:0003577	HP:0003577	Congenital onset	0	GSC CL E G H	145258	602471	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	602471	C1865361	OMIM	1	100	4612	138890
HP:0003577	HP:0003577	Congenital onset	0	HBG2 CL E G H	3048	613977	Cyanosis, transient neonatal	613977	C3151421	OMIM	1	83	4832	142250
HP:0003577	HP:0003577	Congenital onset	0	HCN4 CL E G H	10021	163800	Sick sinus syndrome 2, autosomal dominant	163800	C1834144	OMIM	1	1473	16882	605206
HP:0003577	HP:0003577	Congenital onset	0	HELLS CL E G H	3070	616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	616911	C4310798	OMIM	1	297	4861	603946
HP:0003577	HP:0003577	Congenital onset	0	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	1115	4867	605109
HP:0003577	HP:0003577	Congenital onset	0	HK1 CL E G H	3098	235700	Hemolytic anemia due to hexokinase deficiency	235700	C0472792	OMIM	1	559	4922	142600
HP:0003577	HP:0003577	Congenital onset	0	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0003577	HP:0003577	Congenital onset	0	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0003577	HP:0003577	Congenital onset	0	HRAS CL E G H	3265	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	622	5173	190020
HP:0003577	HP:0003577	Congenital onset	0	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	1		5330	600709
HP:0003577	HP:0003577	Congenital onset	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	271	27302	615316
HP:0003577	HP:0003577	Congenital onset	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0003577	HP:0003577	Congenital onset	0	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0003577	HP:0003577	Congenital onset	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	926	5465	147370
HP:0003577	HP:0003577	Congenital onset	0	ITGA2 CL E G H	3673	614200	Platelet-type bleeding disorder 9	614200	C3280114	OMIM	1	331	6137	192974
HP:0003577	HP:0003577	Congenital onset	0	ITGA6 CL E G H	3655	226730	Epidermolysis bullosa junctionalis with pyloric atresia	226730	C1856934	OMIM	1	296	6142	147556
HP:0003577	HP:0003577	Congenital onset	0	ITGA8 CL E G H	8516	191830	Renal adysplasia	191830	C1619700	OMIM	1	277	6144	604063
HP:0003577	HP:0003577	Congenital onset	0	ITGB4 CL E G H	3691	226730	Epidermolysis bullosa junctionalis with pyloric atresia	226730	C1856934	OMIM	1	698	6158	147557
HP:0003577	HP:0003577	Congenital onset	0	ITPR1 CL E G H	3708	117360	Spinocerebellar ataxia 29	117360	C1861732	OMIM	1	1563	6180	147265
HP:0003577	HP:0003577	Congenital onset	0	JAM3 CL E G H	83700	613730	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	613730	C3151000	OMIM	1	265	15532	606871
HP:0003577	HP:0003577	Congenital onset	0	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0003577	HP:0003577	Congenital onset	0	KIAA1109 CL E G H	84162	617822	ALKURAYA-KUCINSKAS SYNDROME	617822	CN737163	OMIM	1		26953	611565
HP:0003577	HP:0003577	Congenital onset	0	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0003577	HP:0003577	Congenital onset	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0003577	HP:0003577	Congenital onset	0	KIF5C CL E G H	3800	615282	Cortical dysplasia, complex, with other brain malformations 2	615282	C3809013	OMIM	1	205	6325	604593
HP:0003577	HP:0003577	Congenital onset	0	KLF1 CL E G H	10661	613673	Congenital dyserythropoietic anemia, type IV	613673	C3150926	OMIM	1	129	6345	600599
HP:0003577	HP:0003577	Congenital onset	0	KPTN CL E G H	11133	615637	Mental retardation, autosomal recessive 41	615637	C3810225	OMIM	1	161	6404	615620
HP:0003577	HP:0003577	Congenital onset	0	KRT14 CL E G H	3861	601001	Epidermolysis bullosa simplex, autosomal recessive	601001	C1832926	OMIM	1	200	6416	148066
HP:0003577	HP:0003577	Congenital onset	0	KRT5 CL E G H	3852	601001	Epidermolysis bullosa simplex, autosomal recessive	601001	C1832926	OMIM	1	303	6442	148040
HP:0003577	HP:0003577	Congenital onset	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0003577	HP:0003577	Congenital onset	0	LAMA3 CL E G H	3909	226700	Junctional epidermolysis bullosa gravis of Herlitz	226700	C0079683	OMIM	1	1379	6483	600805
HP:0003577	HP:0003577	Congenital onset	0	LAMB3 CL E G H	3914	226700	Junctional epidermolysis bullosa gravis of Herlitz	226700	C0079683	OMIM	1	1020	6490	150310
HP:0003577	HP:0003577	Congenital onset	0	LAMC2 CL E G H	3918	226700	Junctional epidermolysis bullosa gravis of Herlitz	226700	C0079683	OMIM	1	909	6493	150292
HP:0003577	HP:0003577	Congenital onset	0	LARS2 CL E G H	23395	617021	Hydrops, lactic acidosis, and sideroblastic anemia	617021	C4310761	OMIM	1	416	17095	604544
HP:0003577	HP:0003577	Congenital onset	0	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0003577	HP:0003577	Congenital onset	0	LIPT2 CL E G H	387787	617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	617668	C4540052	OMIM	1	113	37216	617659
HP:0003577	HP:0003577	Congenital onset	0	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0003577	HP:0003577	Congenital onset	0	LRTOMT CL E G H	220074	611451	Deafness, autosomal recessive 63	611451	C1969621	OMIM	1	222	25033	612414
HP:0003577	HP:0003577	Congenital onset	0	MARS2 CL E G H	92935	616430	Combined oxidative phosphorylation deficiency 25	616430	C4225329	OMIM	1	204	25133	609728
HP:0003577	HP:0003577	Congenital onset	0	MBOAT7 CL E G H	79143	617188	Mental retardation, autosomal recessive 57	617188	C4310673	OMIM	1	113	15505	606048
HP:0003577	HP:0003577	Congenital onset	0	MBTPS2 CL E G H	51360	308205	IFAP syndrome with or without BRESHECK syndrome	308205	C1839988	OMIM	1	309	15455	300294
HP:0003577	HP:0003577	Congenital onset	0	MECP2 CL E G H	4204	300673	Severe neonatal-onset encephalopathy with microcephaly	300673	C1968556	OMIM	1	1925	6990	300005
HP:0003577	HP:0003577	Congenital onset	0	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0003577	HP:0003577	Congenital onset	0	MEGF10 CL E G H	84466	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	614399	C3280679	OMIM	1	969	29634	612453
HP:0003577	HP:0003577	Congenital onset	0	MFSD2A CL E G H	84879	616486	Primary autosomal recessive microcephaly 15	616486	C4225310	OMIM	1	147	25897	614397
HP:0003577	HP:0003577	Congenital onset	0	MID2 CL E G H	11043	300928	Mental retardation, X-linked 101	300928	C3890168	OMIM	1	210	7096	300204
HP:0003577	HP:0003577	Congenital onset	0	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	473	24862	601336
HP:0003577	HP:0003577	Congenital onset	0	MPC1 CL E G H	51660	614741	Mitochondrial pyruvate carrier deficiency	614741	C3553607	OMIM	1	98	21606	614738
HP:0003577	HP:0003577	Congenital onset	0	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	125	7207	604041
HP:0003577	HP:0003577	Congenital onset	0	MPDZ CL E G H	8777	615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	615219	C3554691	OMIM	1	1610	7208	603785
HP:0003577	HP:0003577	Congenital onset	0	MRPS16 CL E G H	51021	610498	Combined oxidative phosphorylation deficiency 2	610498	C1864843	OMIM	1	96	14048	609204
HP:0003577	HP:0003577	Congenital onset	0	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0003577	HP:0003577	Congenital onset	0	MTO1 CL E G H	25821	614702	Combined oxidative phosphorylation deficiency 10	614702	C3553529	OMIM	1	638	19261	614667
HP:0003577	HP:0003577	Congenital onset	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0003577	HP:0003577	Congenital onset	0	MYO7A CL E G H	4647	600060	Deafness, autosomal recessive 2	600060	C1838701	OMIM	1	3599	7606	276903
HP:0003577	HP:0003577	Congenital onset	0	MYSM1 CL E G H	114803	618116	BONE MARROW FAILURE SYNDROME 4	618116	CN253834	OMIM	1	310	29401	612176
HP:0003577	HP:0003577	Congenital onset	0	NAA10 CL E G H	8260	300855	N-terminal acetyltransferase deficiency	300855	C3275447	OMIM	1	401	18704	300013
HP:0003577	HP:0003577	Congenital onset	0	NALCN CL E G H	259232	616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	616266	C4225398	OMIM	1	877	19082	611549
HP:0003577	HP:0003577	Congenital onset	0	NDE1 CL E G H	54820	614019	Lissencephaly 4	614019	C3151461	OMIM	1	1623	17619	609449
HP:0003577	HP:0003577	Congenital onset	0	NDUFA2 CL E G H	4695	618235	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13	618235		OMIM	1	95	7685	602137
HP:0003577	HP:0003577	Congenital onset	0	NDUFAF3 CL E G H	25915	618240	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18	618240		OMIM	1	123	29918	612911
HP:0003577	HP:0003577	Congenital onset	0	NDUFB11 CL E G H	54539	301021	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30	301021		OMIM	1	209	20372	300403
HP:0003577	HP:0003577	Congenital onset	0	NEDD4L CL E G H	23327	617201	Periventricular nodular heterotopia 7	617201	C4310669	OMIM	1	882	7728	606384
HP:0003577	HP:0003577	Congenital onset	0	NEK8 CL E G H	284086	615415	Renal-hepatic-pancreatic dysplasia 2	615415	C3809434	OMIM	1	279	13387	609799
HP:0003577	HP:0003577	Congenital onset	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0003577	HP:0003577	Congenital onset	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	317	11825	600635
HP:0003577	HP:0003577	Congenital onset	0	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0003577	HP:0003577	Congenital onset	0	NRAS CL E G H	4893	137550	Congenital giant melanocytic nevus	137550	C1842036	OMIM	1	281	7989	164790
HP:0003577	HP:0003577	Congenital onset	0	NUP37 CL E G H	79023	618179	MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE	618179		OMIM	1	29	29929	609264
HP:0003577	HP:0003577	Congenital onset	0	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	326	21042	610463
HP:0003577	HP:0003577	Congenital onset	0	OFD1 CL E G H	8481	311200	Oral-facial-digital syndrome	311200	C1510460	OMIM	1	1020	2567	300170
HP:0003577	HP:0003577	Congenital onset	0	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	1101	8636	608786
HP:0003577	HP:0003577	Congenital onset	0	PCLO CL E G H	27445	608027	Pontocerebellar hypoplasia type 3	608027	C1842687	OMIM	1	2430	13406	604918
HP:0003577	HP:0003577	Congenital onset	0	PDE4D CL E G H	5144	614613	Acrodysostosis 2, with or without hormone resistance	614613	C3553250	OMIM	1	475	8783	600129
HP:0003577	HP:0003577	Congenital onset	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	372	21350	608769
HP:0003577	HP:0003577	Congenital onset	0	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	459	8854	601758
HP:0003577	HP:0003577	Congenital onset	0	PGAP2 CL E G H	27315	614207	Hyperphosphatasia with mental retardation syndrome 3	614207	C3280153	OMIM	1	112	17893	615187
HP:0003577	HP:0003577	Congenital onset	0	PI4KA CL E G H	5297	616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	616531	C4225295	OMIM	1	728	8983	600286
HP:0003577	HP:0003577	Congenital onset	0	PIGG CL E G H	54872	616917	Mental retardation, autosomal recessive 53	616917	C4310794	OMIM	1	1057	25985	616918
HP:0003577	HP:0003577	Congenital onset	0	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	1010	8967	606097
HP:0003577	HP:0003577	Congenital onset	0	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0003577	HP:0003577	Congenital onset	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0003577	HP:0003577	Congenital onset	0	PLAA CL E G H	9373	617527	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES	617527	C4479631	OMIM	1	505	9043	603873
HP:0003577	HP:0003577	Congenital onset	0	PLEC CL E G H	5339	226730	Epidermolysis bullosa junctionalis with pyloric atresia	226730	C1856934	OMIM	1	5068	9069	601282
HP:0003577	HP:0003577	Congenital onset	0	PLEC CL E G H	5339	612138	Epidermolysis bullosa simplex with pyloric atresia	612138	C2677349	OMIM	1	5068	9069	601282
HP:0003577	HP:0003577	Congenital onset	0	PLK4 CL E G H	10733	616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	616171	C4015388	OMIM	1	568	11397	605031
HP:0003577	HP:0003577	Congenital onset	0	POLE CL E G H	5426	615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	615139	C3554576	OMIM	1	8142	9177	174762
HP:0003577	HP:0003577	Congenital onset	0	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	1	1025	30074	614258
HP:0003577	HP:0003577	Congenital onset	0	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	1174	19139	606822
HP:0003577	HP:0003577	Congenital onset	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0003577	HP:0003577	Congenital onset	0	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	307	26267	615247
HP:0003577	HP:0003577	Congenital onset	0	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0003577	HP:0003577	Congenital onset	0	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	105	13420	617413
HP:0003577	HP:0003577	Congenital onset	0	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	772	9498	176801
HP:0003577	HP:0003577	Congenital onset	0	PSAT1 CL E G H	29968	616038	Neu-laxova syndrome 2	616038	C4015019	OMIM	1	498	19129	610936
HP:0003577	HP:0003577	Congenital onset	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0003577	HP:0003577	Congenital onset	0	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	228	17042	604819
HP:0003577	HP:0003577	Congenital onset	0	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0003577	HP:0003577	Congenital onset	0	RARS2 CL E G H	57038	611523	Pontocerebellar hypoplasia type 6	611523	C1969084	OMIM	1	641	21406	611524
HP:0003577	HP:0003577	Congenital onset	0	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	1	326	25539	614151
HP:0003577	HP:0003577	Congenital onset	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0003577	HP:0003577	Congenital onset	0	ROBO3 CL E G H	64221	607313	Gaze palsy, familial horizontal, with progressive scoliosis	607313	C1846496	OMIM	1	314	13433	608630
HP:0003577	HP:0003577	Congenital onset	0	RSPH3 CL E G H	83861	616481	Ciliary dyskinesia, primary, 32	616481	C4225311	OMIM	1	264	21054	615876
HP:0003577	HP:0003577	Congenital onset	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0003577	HP:0003577	Congenital onset	0	SCN5A CL E G H	6331	608567	Sick sinus syndrome 1, autosomal recessive	608567	C1837845	OMIM	1	3531	10593	600163
HP:0003577	HP:0003577	Congenital onset	0	SCO2 CL E G H	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	604377	C1858424	OMIM	1	701	10604	604272
HP:0003577	HP:0003577	Congenital onset	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0003577	HP:0003577	Congenital onset	0	SERPINE1 CL E G H	5054	613329	Plasminogen activator inhibitor type 1 deficiency	613329	C2750067	OMIM	1	131	8583	173360
HP:0003577	HP:0003577	Congenital onset	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0003577	HP:0003577	Congenital onset	0	SLC1A4 CL E G H	6509	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	616657	C4225254	OMIM	1	208	10942	600229
HP:0003577	HP:0003577	Congenital onset	0	SLC25A19 CL E G H	60386	607196	Amish lethal microcephaly	607196	C1846648	OMIM	1	182	14409	606521
HP:0003577	HP:0003577	Congenital onset	0	SLC25A24 CL E G H	29957	612289	Fontaine progeroid syndrome	612289	C2676780	OMIM	1	123	20662	608744
HP:0003577	HP:0003577	Congenital onset	0	SLC25A4 CL E G H	291	617184	Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant	617184	C4310676	OMIM	1	333	10990	103220
HP:0003577	HP:0003577	Congenital onset	0	SLC2A10 CL E G H	81031	208050	Arterial tortuosity syndrome	208050	C1859726	OMIM	1	571	13444	606145
HP:0003577	HP:0003577	Congenital onset	0	SLC39A8 CL E G H	64116	616721	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	616721	C4225234	OMIM	1	181	20862	608732
HP:0003577	HP:0003577	Congenital onset	0	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0003577	HP:0003577	Congenital onset	0	SMARCD2 CL E G H	6603	617475	Specific granule deficiency 2	617475	C4479548	OMIM	1	243	11107	601736
HP:0003577	HP:0003577	Congenital onset	0	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0003577	HP:0003577	Congenital onset	0	SOX18 CL E G H	54345	137940	Glomerulonephritis with sparse hair and telangiectases	137940	C1841989	OMIM	1	134	11194	601618
HP:0003577	HP:0003577	Congenital onset	0	SPTBN4 CL E G H	57731	617519	Myopathy, congenital, with neuropathy and deafness	617519	C4479603	OMIM	1	321	14896	606214
HP:0003577	HP:0003577	Congenital onset	0	SSR4 CL E G H	6748	300934	Congenital disorder of glycosylation type 1y	300934	C4012395	OMIM	1	319	11326	300090
HP:0003577	HP:0003577	Congenital onset	0	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0003577	HP:0003577	Congenital onset	0	STIL CL E G H	6491	612703	Primary autosomal recessive microcephaly 7	612703	C2675187	OMIM	1	350	10879	181590
HP:0003577	HP:0003577	Congenital onset	0	STT3A CL E G H	3703	615596	Congenital disorder of glycosylation type 1w	615596	C3810062	OMIM	1	232	6172	601134
HP:0003577	HP:0003577	Congenital onset	0	STT3B CL E G H	201595	615597	Congenital disorder of glycosylation type 1x	615597	C2931007	OMIM	1	158	30611	608605
HP:0003577	HP:0003577	Congenital onset	0	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	1	534	11535	313650
HP:0003577	HP:0003577	Congenital onset	0	TARS2 CL E G H	80222	615918	Combined oxidative phosphorylation deficiency 21	615918	C4014668	OMIM	1	241	30740	612805
HP:0003577	HP:0003577	Congenital onset	0	TBCK CL E G H	93627	616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	616900	C4225161	OMIM	1	722	28261	616899
HP:0003577	HP:0003577	Congenital onset	0	TBXT CL E G H	6862	615709	Sacral agenesis with vertebral anomalies	615709	C3810343	OMIM	1	87	11515	601397
HP:0003577	HP:0003577	Congenital onset	0	TELO2 CL E G H	9894	616954	You-Hoover-Fong syndrome	616954	C4310778	OMIM	1	405	29099	611140
HP:0003577	HP:0003577	Congenital onset	0	TFAM CL E G H	7019	617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	617156	C4310690	OMIM	1	78	11741	600438
HP:0003577	HP:0003577	Congenital onset	0	TMEM231 CL E G H	79583	614970	Joubert syndrome 20	614970	C3554235	OMIM	1	463	37234	614949
HP:0003577	HP:0003577	Congenital onset	0	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	325	26050	612418
HP:0003577	HP:0003577	Congenital onset	0	TOE1 CL E G H	114034	614969	Pontocerebellar hypoplasia, type 7	614969	C3554226	OMIM	1	272	15954	613931
HP:0003577	HP:0003577	Congenital onset	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0003577	HP:0003577	Congenital onset	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0003577	HP:0003577	Congenital onset	0	TRAPPC12 CL E G H	51112	617669	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	617669	C4540059	OMIM	1	202	24284	614139
HP:0003577	HP:0003577	Congenital onset	0	TRIM36 CL E G H	55521	206500	Anencephalus	206500	C0002902	OMIM	1	73	16280	609317
HP:0003577	HP:0003577	Congenital onset	0	TRIP4 CL E G H	9325	617066	Muscular dystrophy, congenital, davignon-chauveau type	617066	C4310736	OMIM	1	212	12310	604501
HP:0003577	HP:0003577	Congenital onset	0	TRIP4 CL E G H	9325	616866	Spinal muscular atrophy with congenital bone fractures 1	616866	C4225177	OMIM	1	212	12310	604501
HP:0003577	HP:0003577	Congenital onset	0	TRMT10C CL E G H	54931	616974	Combined oxidative phosphorylation deficiency 30	616974	C4310773	OMIM	1	54	26022	615423
HP:0003577	HP:0003577	Congenital onset	0	TSEN15 CL E G H	116461	617026	Pontocerebellar hypoplasia, type 2f	617026	C4310757	OMIM	1	65	16791	608756
HP:0003577	HP:0003577	Congenital onset	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0003577	HP:0003577	Congenital onset	0	TSEN54 CL E G H	283989	277470	Pontocerebellar hypoplasia type 2A	277470	C1848526	OMIM	1	414	27561	608755
HP:0003577	HP:0003577	Congenital onset	0	TSEN54 CL E G H	283989	225753	Pontocerebellar hypoplasia type 4	225753	C1856974	OMIM	1	414	27561	608755
HP:0003577	HP:0003577	Congenital onset	0	TSEN54 CL E G H	283989	610204	Pontocerebellar hypoplasia type 5	610204	C1857762	OMIM	1	414	27561	608755
HP:0003577	HP:0003577	Congenital onset	0	TTC25 CL E G H	83538	617092	Ciliary dyskinesia, primary, 35	617092	C4310721	OMIM	1		25280	617095
HP:0003577	HP:0003577	Congenital onset	0	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0003577	HP:0003577	Congenital onset	0	TUBA8 CL E G H	51807	613180	Polymicrogyria with optic nerve hypoplasia	613180	C2750798	OMIM	1	321	12410	605742
HP:0003577	HP:0003577	Congenital onset	0	TUBB CL E G H	203068	615771	Cortical dysplasia, complex, with other brain malformations 6	615771	C4014283	OMIM	1	94	20778	191130
HP:0003577	HP:0003577	Congenital onset	0	TUBB3 CL E G H	10381	614039	Cortical dysplasia, complex, with other brain malformations 1	614039	C3808397	OMIM	1	320	20772	602661
HP:0003577	HP:0003577	Congenital onset	0	TUBGCP4 CL E G H	27229	616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	616335	C4225362	OMIM	1	475	16691	609610
HP:0003577	HP:0003577	Congenital onset	0	TUBGCP6 CL E G H	85378	251270	Microcephaly with chorioretinopathy, autosomal recessive	251270	C3278481	OMIM	1	1998	18127	610053
HP:0003577	HP:0003577	Congenital onset	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	76	17772	609063
HP:0003577	HP:0003577	Congenital onset	0	TYR CL E G H	7299	203100	Tyrosinase-negative oculocutaneous albinism	203100	C0268494	OMIM	1	517	12442	606933
HP:0003577	HP:0003577	Congenital onset	0	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0003577	HP:0003577	Congenital onset	0	UROS CL E G H	7390	263700	Congenital erythropoietic porphyria	263700	C0162530	OMIM	1	176	12592	606938
HP:0003577	HP:0003577	Congenital onset	0	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	1	165	12616	607057
HP:0003577	HP:0003577	Congenital onset	0	VIM CL E G H	7431	116300	Cataract 30	116300	C3805411	OMIM	1	106	12692	193060
HP:0003577	HP:0003577	Congenital onset	0	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	575	12698	192977
HP:0003577	HP:0003577	Congenital onset	0	VRK1 CL E G H	7443	607596	Pontocerebellar hypoplasia type 1A	607596	CN032785	OMIM	1	461	12718	602168
HP:0003577	HP:0003577	Congenital onset	0	WDR62 CL E G H	284403	604317	Primary autosomal recessive microcephaly 2	604317	C1858535	OMIM	1	864	24502	613583
HP:0003577	HP:0003577	Congenital onset	0	WDR81 CL E G H	124997	617967	HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES	617967	CN252328	OMIM	1	420	26600	614218
HP:0003577	HP:0003577	Congenital onset	0	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0003577	HP:0003577	Congenital onset	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0003577	HP:0003577	Congenital onset	0	ZNF335 CL E G H	63925	615095	Primary autosomal recessive microcephaly 10	615095	C3554499	OMIM	1	507	15807	610827
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (262) :AARS ABCA3 ABCD4 ACTA1 AFF4 ALG9 AP1S1 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 ARHGEF9 ARMC9 ASCC1 ASPM ATAD1 ATP11C ATP2B3 ATP5F1A ATP6V1B2 ATP8A2 B4GAT1 BCL11A BCL11B BICD2 BRAF BRPF1 BSCL2 BSND C2CD3 CA8 CCDC103 CCDC88C CCND2 CD8A CDK5 CDSN CENPF CENPJ CEP135 CHAMP1 CHAT CHKB CHMP1A CHRNB1 CHRND CHRNE CIB2 CIT CLCNKA CLCNKB CLP1 CLPB CNTNAP1 COA5 COASY COG6 COL13A1 COL25A1 COL7A1 COQ7 CRB2 CREB3L1 CSPP1 CTSD DCHS1 DCPS DNAAF3 DNAL1 DNM2 DOCK2 DONSON DPAGT1 DPH1 DPM2 DSTYK DVL1 EBP EED EGR2 ELOVL4 ELP1 ELP2 EP300 EPG5 EPS8 ERCC1 ERGIC1 EXOSC3 F13A1 F13B F2 FAT4 FKRP FLT4 FUT8 GFM1 GMPPB GPRASP2 GREB1L GSC HBG2 HCN4 HELLS HERC1 HK1 HOXB1 HPGD HRAS IARS IBA57 IER3IP1 IGF1 IGF1R ITGA2 ITGA6 ITGA8 ITGB4 ITPR1 JAM3 KIAA0556 KIAA1109 KIF1BP KIF5A KIF5C KLF1 KPTN KRT14 KRT5 LAMA2 LAMA3 LAMB3 LAMC2 LARS2 LGI4 LIPT2 LRP4 LRTOMT MARS2 MBOAT7 MBTPS2 MECP2 MED25 MEGF10 MFSD2A MID2 MOGS MPC1 MPDU1 MPDZ MRPS16 MRPS22 MTO1 MYH7 MYO7A MYSM1 NAA10 NALCN NDE1 NDUFA2 NDUFAF3 NDUFB11 NEDD4L NEK8 NEXMIF NKX2-1 NPHS1 NRAS NUP37 NUS1 OFD1 PC PCLO PDE4D PDHX PEX12 PGAP2 PI4KA PIGG PIGN PIGO PIGY PLAA PLEC PLK4 POLE POLR3A POMGNT1 POMK PREPL PRUNE1 PSAP PSAT1 PTRH2 PUF60 RAPSN RARS2 RFWD3 RMND1 ROBO3 RSPH3 RYR1 SCN5A SCO2 SELENON SERPINE1 SLC16A2 SLC1A4 SLC25A19 SLC25A24 SLC25A4 SLC2A10 SLC39A8 SLC6A9 SMARCD2 SNAP25 SOX18 SPTBN4 SSR4 STAMBP STIL STT3A STT3B TAF1 TARS2 TBCK TBXT TELO2 TFAM TMEM231 TMEM70 TOE1 TPM2 TPM3 TRAPPC12 TRIM36 TRIP4 TRMT10C TSEN15 TSEN2 TSEN54 TTC25 TTN TUBA8 TUBB TUBB3 TUBGCP4 TUBGCP6 TXN2 TYR UQCC3 UROS USP18 VIM VLDLR VRK1 WDR62 WDR81 ZBTB24 ZC4H2 ZNF335

Diseases (261) :616339 610921 614857 255310 616368 263210 609313 608233 614066 613744 612936 614067 300607 617622 616867 608716 618011 301015 302500 616045 615228 124480 615268 615287 617101 617237 618291 115150 617333 269700 602522 615948 613227 614679 236600 615938 608957 616342 270300 243605 608393 614673 616579 254210 602541 614961 616313 616314 616323 605809 614869 617090 613090 615803 616271 618186 616500 618266 614576 615328 616720 616219 131750 226600 131705 616733 219730 616229 615636 610127 601390 616459 606763 614017 615368 616433 617604 608093 616901 615042 610805 616331 302960 617561 605253 614457 223900 617270 613684 242840 615974 610758 208100 614678 613225 613235 613679 615546 606612 613153 153100 618005 609060 615350 301018 617805 602471 613977 163800 616911 617011 235700 614744 259100 137550 617093 615330 614231 608747 270450 614200 226730 191830 117360 613730 616784 617822 609460 617235 615282 613673 615637 601001 607855 226700 617021 617468 617668 616304 611451 616430 617188 308205 300673 616449 614399 616486 300928 606056 614741 609180 615219 610498 611719 614702 600060 618116 300855 616266 614019 618235 618240 301021 617201 615415 300912 610978 256300 618179 617082 311200 266150 608027 614613 245349 266510 614207 616531 616917 614080 614749 616809 617527 612138 616171 615139 264090 613151 253280 615249 616224 617481 611721 616038 616263 615583 616326 611523 617784 614922 607313 616481 608567 604377 613329 300523 616657 607196 612289 617184 208050 616721 617301 617475 616330 137940 617519 300934 614261 612703 615596 615597 300966 615918 616900 615709 616954 617156 614970 614052 614969 617669 206500 617066 616866 616974 617026 612389 277470 225753 610204 617092 611705 613180 615771 614039 616335 251270 616811 203100 616111 263700 617397 116300 224050 607596 604317 617967 614069 314580 615095

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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