Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Onset (HP:0003674)

Parent Node:
Adult onset (HP:0003581)

..Starting node
..Young adult onset (HP:0011462)

Term ID:

11462

Name:

Young adult onset

Synonym:

Definition:

Onset of disease at the age of between 16 and 40 years.

Comments:

Reference:

HP:0011462

Genes and Diseases:

Child Nodes:

Sister Nodes:

Late onset (HP:0003584)

Middle age onset (HP:0003596)

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:0011462	HP:0011462	Young adult onset	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0011462	HP:0011462	Young adult onset	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0011462	HP:0011462	Young adult onset	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0011462	HP:0011462	Young adult onset	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0011462	HP:0011462	Young adult onset	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0011462	HP:0011462	Young adult onset	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0011462	HP:0011462	Young adult onset	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011462	HP:0011462	Young adult onset	0	ACTG1 CL E G H	71	144	OMIM:604717	Deafness, autosomal dominant 20	.	123
HP:0011462	HP:0011462	Young adult onset	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0011462	HP:0011462	Young adult onset	0	ADGRG2 CL E G H	10149	4516	OMIM:300985	Vas deferens, congenital bilateral aplasia of, X-linked		5
HP:0011462	HP:0011462	Young adult onset	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0011462	HP:0011462	Young adult onset	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1		95
HP:0011462	HP:0011462	Young adult onset	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0011462	HP:0011462	Young adult onset	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0011462	HP:0011462	Young adult onset	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0011462	HP:0011462	Young adult onset	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0011462	HP:0011462	Young adult onset	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8		6
HP:0011462	HP:0011462	Young adult onset	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0011462	HP:0011462	Young adult onset	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011462	HP:0011462	Young adult onset	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0011462	HP:0011462	Young adult onset	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0011462	HP:0011462	Young adult onset	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0011462	HP:0011462	Young adult onset	0	ASTL CL E G H	431705	31704	OMIM:619643	OOCYTE MATURATION DEFECT 11; OOMD11
HP:0011462	HP:0011462	Young adult onset	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID		71
HP:0011462	HP:0011462	Young adult onset	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0011462	HP:0011462	Young adult onset	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0011462	HP:0011462	Young adult onset	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0011462	HP:0011462	Young adult onset	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0011462	HP:0011462	Young adult onset	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	HP:0040282 - Frequent	150
HP:0011462	HP:0011462	Young adult onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0011462	HP:0011462	Young adult onset	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0011462	HP:0011462	Young adult onset	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0011462	HP:0011462	Young adult onset	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0011462	HP:0011462	Young adult onset	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0011462	HP:0011462	Young adult onset	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0011462	HP:0011462	Young adult onset	0	AURKC CL E G H	6795	11391	OMIM:243060	Male infertility with large-headed, multiflagellar, polyploid spermatozoa		12
HP:0011462	HP:0011462	Young adult onset	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0011462	HP:0011462	Young adult onset	0	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh		204
HP:0011462	HP:0011462	Young adult onset	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0011462	HP:0011462	Young adult onset	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome		184
HP:0011462	HP:0011462	Young adult onset	0	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11		75
HP:0011462	HP:0011462	Young adult onset	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0011462	HP:0011462	Young adult onset	0	BPY2 CL E G H	9083	13508	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0011462	HP:0011462	Young adult onset	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0011462	HP:0011462	Young adult onset	0	C14ORF39 CL E G H	317761	19849	OMIM:619202	SPERMATOGENIC FAILURE 52; SPGF52
HP:0011462	HP:0011462	Young adult onset	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0011462	HP:0011462	Young adult onset	0	C2CD6 CL E G H	151254	14438	OMIM:619805	SPERMATOGENIC FAILURE 68; SPGF68		1
HP:0011462	HP:0011462	Young adult onset	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0011462	HP:0011462	Young adult onset	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0011462	HP:0011462	Young adult onset	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0011462	HP:0011462	Young adult onset	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0011462	HP:0011462	Young adult onset	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011462	HP:0011462	Young adult onset	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0011462	HP:0011462	Young adult onset	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0011462	HP:0011462	Young adult onset	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0011462	HP:0011462	Young adult onset	0	CATIP CL E G H	375307	25062	OMIM:619379	SPERMATOGENIC FAILURE 54; SPGF54
HP:0011462	HP:0011462	Young adult onset	0	CATSPER1 CL E G H	117144	17116	OMIM:612997	Spermatogenic failure 7		45
HP:0011462	HP:0011462	Young adult onset	0	CATSPER2 CL E G H	117155	18810	OMIM:612997	Spermatogenic failure 7		12
HP:0011462	HP:0011462	Young adult onset	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011462	HP:0011462	Young adult onset	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0011462	HP:0011462	Young adult onset	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0011462	HP:0011462	Young adult onset	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93		247
HP:0011462	HP:0011462	Young adult onset	0	CCDC34 CL E G H	91057	25079	OMIM:620084
HP:0011462	HP:0011462	Young adult onset	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0011462	HP:0011462	Young adult onset	0	CCDC62 CL E G H	84660	30723	OMIM:619803	SPERMATOGENIC FAILURE 67; SPGF67
HP:0011462	HP:0011462	Young adult onset	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0011462	HP:0011462	Young adult onset	0	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0011462	HP:0011462	Young adult onset	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0011462	HP:0011462	Young adult onset	0	CDY1 CL E G H	9085	1809	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	CDY2A CL E G H	9426	1810	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0011462	HP:0011462	Young adult onset	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0011462	HP:0011462	Young adult onset	0	CFAP43 CL E G H	80217	26684	OMIM:617592	Spermatogenic failure 19		6
HP:0011462	HP:0011462	Young adult onset	0	CFAP44 CL E G H	55779	25631	OMIM:617593	Spermatogenic failure 20		1
HP:0011462	HP:0011462	Young adult onset	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0011462	HP:0011462	Young adult onset	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0011462	HP:0011462	Young adult onset	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0011462	HP:0011462	Young adult onset	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0011462	HP:0011462	Young adult onset	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0011462	HP:0011462	Young adult onset	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0011462	HP:0011462	Young adult onset	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0011462	HP:0011462	Young adult onset	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive		143
HP:0011462	HP:0011462	Young adult onset	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0011462	HP:0011462	Young adult onset	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0011462	HP:0011462	Young adult onset	0	COL4A1 CL E G H	1282	2202	OMIM:618564	MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL		193
HP:0011462	HP:0011462	Young adult onset	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0011462	HP:0011462	Young adult onset	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0011462	HP:0011462	Young adult onset	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced		101
HP:0011462	HP:0011462	Young adult onset	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0011462	HP:0011462	Young adult onset	0	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0011462	HP:0011462	Young adult onset	0	CYLD CL E G H	1540	2584	OMIM:619132	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8		126
HP:0011462	HP:0011462	Young adult onset	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0011462	HP:0011462	Young adult onset	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0011462	HP:0011462	Young adult onset	0	DAZ1 CL E G H	1617	2682	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	DAZ2 CL E G H	57055	15964	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	DAZ3 CL E G H	57054	15965	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	DDX3Y CL E G H	8653	2699	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0011462	HP:0011462	Young adult onset	0	DIAPH2 CL E G H	1730	2877	OMIM:300511	Premature ovarian failure 2A		6
HP:0011462	HP:0011462	Young adult onset	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0011462	HP:0011462	Young adult onset	0	DNAH17 CL E G H	8632	2946	OMIM:618643	SPERMATOGENIC FAILURE 39; SPGF39		37
HP:0011462	HP:0011462	Young adult onset	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0011462	HP:0011462	Young adult onset	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0011462	HP:0011462	Young adult onset	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0011462	HP:0011462	Young adult onset	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant		155
HP:0011462	HP:0011462	Young adult onset	0	DNHD1 CL E G H	144132	26532	OMIM:619712	SPERMATOGENIC FAILURE 65; SPGF65
HP:0011462	HP:0011462	Young adult onset	0	DPY19L2 CL E G H	283417	19414	OMIM:613958	Spermatogenic failure 9		17
HP:0011462	HP:0011462	Young adult onset	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0011462	HP:0011462	Young adult onset	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0011462	HP:0011462	Young adult onset	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8		747
HP:0011462	HP:0011462	Young adult onset	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0011462	HP:0011462	Young adult onset	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0011462	HP:0011462	Young adult onset	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0011462	HP:0011462	Young adult onset	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0011462	HP:0011462	Young adult onset	0	ELMOD3 CL E G H	84173	26158	OMIM:619500	DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81		1
HP:0011462	HP:0011462	Young adult onset	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0011462	HP:0011462	Young adult onset	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0011462	HP:0011462	Young adult onset	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0011462	HP:0011462	Young adult onset	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0011462	HP:0011462	Young adult onset	0	ERCC6 CL E G H	2074	3438	OMIM:616946	PREMATURE OVARIAN FAILURE 11; POF11		199
HP:0011462	HP:0011462	Young adult onset	0	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1		159
HP:0011462	HP:0011462	Young adult onset	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0011462	HP:0011462	Young adult onset	0	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0011462	HP:0011462	Young adult onset	0	FBXO43 CL E G H	286151	28521	OMIM:619696	SPERMATOGENIC FAILURE 64; SPGF64
HP:0011462	HP:0011462	Young adult onset	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0011462	HP:0011462	Young adult onset	0	FKBP6 CL E G H	8468	3722	OMIM:620103
HP:0011462	HP:0011462	Young adult onset	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0011462	HP:0011462	Young adult onset	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0011462	HP:0011462	Young adult onset	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0011462	HP:0011462	Young adult onset	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0011462	HP:0011462	Young adult onset	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0011462	HP:0011462	Young adult onset	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0011462	HP:0011462	Young adult onset	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0011462	HP:0011462	Young adult onset	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0011462	HP:0011462	Young adult onset	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0011462	HP:0011462	Young adult onset	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0011462	HP:0011462	Young adult onset	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0011462	HP:0011462	Young adult onset	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0011462	HP:0011462	Young adult onset	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0011462	HP:0011462	Young adult onset	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0011462	HP:0011462	Young adult onset	0	GCNA CL E G H	93953	15805	OMIM:301077	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0011462	HP:0011462	Young adult onset	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0011462	HP:0011462	Young adult onset	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0011462	HP:0011462	Young adult onset	0	GGN CL E G H	199720	18869	OMIM:619826	SPERMATOGENIC FAILURE 69; SPGF69
HP:0011462	HP:0011462	Young adult onset	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0011462	HP:0011462	Young adult onset	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0011462	HP:0011462	Young adult onset	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11		126
HP:0011462	HP:0011462	Young adult onset	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0011462	HP:0011462	Young adult onset	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0011462	HP:0011462	Young adult onset	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0011462	HP:0011462	Young adult onset	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0011462	HP:0011462	Young adult onset	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0011462	HP:0011462	Young adult onset	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0011462	HP:0011462	Young adult onset	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0011462	HP:0011462	Young adult onset	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0011462	HP:0011462	Young adult onset	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0011462	HP:0011462	Young adult onset	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0011462	HP:0011462	Young adult onset	0	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92		2
HP:0011462	HP:0011462	Young adult onset	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0011462	HP:0011462	Young adult onset	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0011462	HP:0011462	Young adult onset	0	HSFY1 CL E G H	86614	18568	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		1
HP:0011462	HP:0011462	Young adult onset	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0011462	HP:0011462	Young adult onset	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0011462	HP:0011462	Young adult onset	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0011462	HP:0011462	Young adult onset	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011462	HP:0011462	Young adult onset	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0011462	HP:0011462	Young adult onset	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0011462	HP:0011462	Young adult onset	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0011462	HP:0011462	Young adult onset	0	IFT74 CL E G H	80173	21424	OMIM:619585	SPERMATOGENIC FAILURE 58; SPGF58		3
HP:0011462	HP:0011462	Young adult onset	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0011462	HP:0011462	Young adult onset	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011462	HP:0011462	Young adult onset	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5		120
HP:0011462	HP:0011462	Young adult onset	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0011462	HP:0011462	Young adult onset	0	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities		3
HP:0011462	HP:0011462	Young adult onset	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0011462	HP:0011462	Young adult onset	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0011462	HP:0011462	Young adult onset	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17		111
HP:0011462	HP:0011462	Young adult onset	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0011462	HP:0011462	Young adult onset	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13		17
HP:0011462	HP:0011462	Young adult onset	0	KCND3 CL E G H	3752	6239	OMIM:616399	Brugada syndrome 9		35
HP:0011462	HP:0011462	Young adult onset	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0011462	HP:0011462	Young adult onset	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0011462	HP:0011462	Young adult onset	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0011462	HP:0011462	Young adult onset	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0011462	HP:0011462	Young adult onset	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0011462	HP:0011462	Young adult onset	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0011462	HP:0011462	Young adult onset	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0011462	HP:0011462	Young adult onset	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0011462	HP:0011462	Young adult onset	0	KDM5D CL E G H	8284	11115	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25		93
HP:0011462	HP:0011462	Young adult onset	0	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0011462	HP:0011462	Young adult onset	0	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj		279
HP:0011462	HP:0011462	Young adult onset	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0011462	HP:0011462	Young adult onset	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0011462	HP:0011462	Young adult onset	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0011462	HP:0011462	Young adult onset	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0011462	HP:0011462	Young adult onset	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0011462	HP:0011462	Young adult onset	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0011462	HP:0011462	Young adult onset	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011462	HP:0011462	Young adult onset	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0011462	HP:0011462	Young adult onset	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0011462	HP:0011462	Young adult onset	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0011462	HP:0011462	Young adult onset	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011462	HP:0011462	Young adult onset	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0011462	HP:0011462	Young adult onset	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0011462	HP:0011462	Young adult onset	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0011462	HP:0011462	Young adult onset	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0011462	HP:0011462	Young adult onset	0	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0011462	HP:0011462	Young adult onset	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0011462	HP:0011462	Young adult onset	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.	140
HP:0011462	HP:0011462	Young adult onset	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0011462	HP:0011462	Young adult onset	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0011462	HP:0011462	Young adult onset	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0011462	HP:0011462	Young adult onset	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0011462	HP:0011462	Young adult onset	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0011462	HP:0011462	Young adult onset	0	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3
HP:0011462	HP:0011462	Young adult onset	0	MEIOB CL E G H	254528	28569	OMIM:617706	Spermatogenic failure 22
HP:0011462	HP:0011462	Young adult onset	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0011462	HP:0011462	Young adult onset	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0011462	HP:0011462	Young adult onset	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0011462	HP:0011462	Young adult onset	0	MOV10L1 CL E G H	54456	7201	OMIM:619878
HP:0011462	HP:0011462	Young adult onset	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0011462	HP:0011462	Young adult onset	0	MSH4 CL E G H	4438	7327	OMIM:619938
HP:0011462	HP:0011462	Young adult onset	0	MSH4 CL E G H	4438	7327	OMIM:108420	Spermatogenic failure 2
HP:0011462	HP:0011462	Young adult onset	0	MSH5 CL E G H	4439	7328	OMIM:619937			5
HP:0011462	HP:0011462	Young adult onset	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0011462	HP:0011462	Young adult onset	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14		452
HP:0011462	HP:0011462	Young adult onset	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0011462	HP:0011462	Young adult onset	0	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0011462	HP:0011462	Young adult onset	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0011462	HP:0011462	Young adult onset	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0011462	HP:0011462	Young adult onset	0	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc		167
HP:0011462	HP:0011462	Young adult onset	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0011462	HP:0011462	Young adult onset	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0011462	HP:0011462	Young adult onset	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0011462	HP:0011462	Young adult onset	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0011462	HP:0011462	Young adult onset	0	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1		171
HP:0011462	HP:0011462	Young adult onset	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0011462	HP:0011462	Young adult onset	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0011462	HP:0011462	Young adult onset	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0011462	HP:0011462	Young adult onset	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0011462	HP:0011462	Young adult onset	0	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6		13
HP:0011462	HP:0011462	Young adult onset	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0011462	HP:0011462	Young adult onset	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0011462	HP:0011462	Young adult onset	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0011462	HP:0011462	Young adult onset	0	PATL2 CL E G H	197135	33630	OMIM:617743	Oocyte maturation defect 4
HP:0011462	HP:0011462	Young adult onset	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0011462	HP:0011462	Young adult onset	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0011462	HP:0011462	Young adult onset	0	PDHA2 CL E G H	5161	8807	OMIM:619828	SPERMATOGENIC FAILURE 70; SPGF70
HP:0011462	HP:0011462	Young adult onset	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0011462	HP:0011462	Young adult onset	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0011462	HP:0011462	Young adult onset	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0011462	HP:0011462	Young adult onset	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9		406
HP:0011462	HP:0011462	Young adult onset	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0011462	HP:0011462	Young adult onset	0	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4		11
HP:0011462	HP:0011462	Young adult onset	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0011462	HP:0011462	Young adult onset	0	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P		57
HP:0011462	HP:0011462	Young adult onset	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0011462	HP:0011462	Young adult onset	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0011462	HP:0011462	Young adult onset	0	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types		3
HP:0011462	HP:0011462	Young adult onset	0	PNLDC1 CL E G H	154197	21185	OMIM:619528	SPERMATOGENIC FAILURE 57; SPGF57
HP:0011462	HP:0011462	Young adult onset	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B		31
HP:0011462	HP:0011462	Young adult onset	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0011462	HP:0011462	Young adult onset	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0011462	HP:0011462	Young adult onset	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0011462	HP:0011462	Young adult onset	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0011462	HP:0011462	Young adult onset	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0011462	HP:0011462	Young adult onset	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0011462	HP:0011462	Young adult onset	0	PPP2R3C CL E G H	55012	17485	OMIM:618420	Spermatogenic failure 36
HP:0011462	HP:0011462	Young adult onset	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0011462	HP:0011462	Young adult onset	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0011462	HP:0011462	Young adult onset	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0011462	HP:0011462	Young adult onset	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0011462	HP:0011462	Young adult onset	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0011462	HP:0011462	Young adult onset	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0011462	HP:0011462	Young adult onset	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1		69
HP:0011462	HP:0011462	Young adult onset	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0011462	HP:0011462	Young adult onset	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0011462	HP:0011462	Young adult onset	0	PRY CL E G H	9081	14024	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	PRY2 CL E G H	442862	21504	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		5
HP:0011462	HP:0011462	Young adult onset	0	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0011462	HP:0011462	Young adult onset	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0011462	HP:0011462	Young adult onset	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0011462	HP:0011462	Young adult onset	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0011462	HP:0011462	Young adult onset	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0011462	HP:0011462	Young adult onset	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0011462	HP:0011462	Young adult onset	0	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0011462	HP:0011462	Young adult onset	0	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd		363
HP:0011462	HP:0011462	Young adult onset	0	RBMY1A1 CL E G H	5940	9912	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0011462	HP:0011462	Young adult onset	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0011462	HP:0011462	Young adult onset	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011462	HP:0011462	Young adult onset	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0011462	HP:0011462	Young adult onset	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0011462	HP:0011462	Young adult onset	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0011462	HP:0011462	Young adult onset	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0011462	HP:0011462	Young adult onset	0	RPL10L CL E G H	140801	17976	OMIM:619689	SPERMATOGENIC FAILURE 63; SPGF63		2
HP:0011462	HP:0011462	Young adult onset	0	RPS4Y2 CL E G H	140032	18501	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0011462	HP:0011462	Young adult onset	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0011462	HP:0011462	Young adult onset	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0011462	HP:0011462	Young adult onset	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0011462	HP:0011462	Young adult onset	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0011462	HP:0011462	Young adult onset	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0011462	HP:0011462	Young adult onset	0	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0011462	HP:0011462	Young adult onset	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated		263
HP:0011462	HP:0011462	Young adult onset	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0011462	HP:0011462	Young adult onset	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0011462	HP:0011462	Young adult onset	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0011462	HP:0011462	Young adult onset	0	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0011462	HP:0011462	Young adult onset	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0011462	HP:0011462	Young adult onset	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0011462	HP:0011462	Young adult onset	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0011462	HP:0011462	Young adult onset	0	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes		52
HP:0011462	HP:0011462	Young adult onset	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0011462	HP:0011462	Young adult onset	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0011462	HP:0011462	Young adult onset	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0011462	HP:0011462	Young adult onset	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0011462	HP:0011462	Young adult onset	0	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15		53
HP:0011462	HP:0011462	Young adult onset	0	SHOC1 CL E G H	158401	26535	OMIM:619949
HP:0011462	HP:0011462	Young adult onset	0	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type		3
HP:0011462	HP:0011462	Young adult onset	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0011462	HP:0011462	Young adult onset	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0011462	HP:0011462	Young adult onset	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011462	HP:0011462	Young adult onset	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0011462	HP:0011462	Young adult onset	0	SLC26A8 CL E G H	116369	14468	OMIM:606766	Spermatogenic failure 3		3
HP:0011462	HP:0011462	Young adult onset	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0011462	HP:0011462	Young adult onset	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0011462	HP:0011462	Young adult onset	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0011462	HP:0011462	Young adult onset	0	SLC44A4 CL E G H	80736	13941	OMIM:617606	Deafness, autosomal dominant 72		1
HP:0011462	HP:0011462	Young adult onset	0	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness		66
HP:0011462	HP:0011462	Young adult onset	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0011462	HP:0011462	Young adult onset	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0011462	HP:0011462	Young adult onset	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0011462	HP:0011462	Young adult onset	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0011462	HP:0011462	Young adult onset	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0011462	HP:0011462	Young adult onset	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0011462	HP:0011462	Young adult onset	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0011462	HP:0011462	Young adult onset	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0011462	HP:0011462	Young adult onset	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7		12
HP:0011462	HP:0011462	Young adult onset	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0011462	HP:0011462	Young adult onset	0	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12		118
HP:0011462	HP:0011462	Young adult onset	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011462	HP:0011462	Young adult onset	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0011462	HP:0011462	Young adult onset	0	SPAG17 CL E G H	200162	26620	OMIM:619380	SPERMATOGENIC FAILURE 55; SPGF55		2
HP:0011462	HP:0011462	Young adult onset	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0011462	HP:0011462	Young adult onset	0	SPRY2 CL E G H	10253	11270	OMIM:616818	Iga nephropathy, susceptibility to, 3		1
HP:0011462	HP:0011462	Young adult onset	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0011462	HP:0011462	Young adult onset	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0011462	HP:0011462	Young adult onset	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0011462	HP:0011462	Young adult onset	0	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4		2
HP:0011462	HP:0011462	Young adult onset	0	STRC CL E G H	161497	16035	OMIM:612997	Spermatogenic failure 7		78
HP:0011462	HP:0011462	Young adult onset	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0011462	HP:0011462	Young adult onset	0	SYCE1 CL E G H	93426	28852	OMIM:616950	Spermatogenic failure 15		4
HP:0011462	HP:0011462	Young adult onset	0	SYCP2 CL E G H	10388	11490	OMIM:258150	SPERMATOGENIC FAILURE 1; SPGF1		1
HP:0011462	HP:0011462	Young adult onset	0	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4		12
HP:0011462	HP:0011462	Young adult onset	0	TAF4B CL E G H	6875	11538	OMIM:615841	Spermatogenic failure 13		1
HP:0011462	HP:0011462	Young adult onset	0	TBC1D24 CL E G H	57465	29203	OMIM:616044	Deafness, autosomal dominant 65		271
HP:0011462	HP:0011462	Young adult onset	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0011462	HP:0011462	Young adult onset	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0011462	HP:0011462	Young adult onset	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0011462	HP:0011462	Young adult onset	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0011462	HP:0011462	Young adult onset	0	TERB1 CL E G H	283847	26675	OMIM:619646	SPERMATOGENIC FAILURE 60; SPGF60
HP:0011462	HP:0011462	Young adult onset	0	TERB2 CL E G H	145645	28520	OMIM:619645	SPERMATOGENIC FAILURE 59; SPGF59
HP:0011462	HP:0011462	Young adult onset	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0011462	HP:0011462	Young adult onset	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0011462	HP:0011462	Young adult onset	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0011462	HP:0011462	Young adult onset	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0011462	HP:0011462	Young adult onset	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26		5
HP:0011462	HP:0011462	Young adult onset	0	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0011462	HP:0011462	Young adult onset	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy		95
HP:0011462	HP:0011462	Young adult onset	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0011462	HP:0011462	Young adult onset	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0011462	HP:0011462	Young adult onset	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011462	HP:0011462	Young adult onset	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011462	HP:0011462	Young adult onset	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5		171
HP:0011462	HP:0011462	Young adult onset	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0011462	HP:0011462	Young adult onset	0	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z		73
HP:0011462	HP:0011462	Young adult onset	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0011462	HP:0011462	Young adult onset	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0011462	HP:0011462	Young adult onset	0	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A	.	180
HP:0011462	HP:0011462	Young adult onset	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0011462	HP:0011462	Young adult onset	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2		248
HP:0011462	HP:0011462	Young adult onset	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0011462	HP:0011462	Young adult onset	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus		911
HP:0011462	HP:0011462	Young adult onset	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0011462	HP:0011462	Young adult onset	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0011462	HP:0011462	Young adult onset	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0011462	HP:0011462	Young adult onset	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0011462	HP:0011462	Young adult onset	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0011462	HP:0011462	Young adult onset	0	TTC21A CL E G H	199223	30761	OMIM:618429	Spermatogenic failure 37
HP:0011462	HP:0011462	Young adult onset	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0011462	HP:0011462	Young adult onset	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0011462	HP:0011462	Young adult onset	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant		66
HP:0011462	HP:0011462	Young adult onset	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0011462	HP:0011462	Young adult onset	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0011462	HP:0011462	Young adult onset	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0011462	HP:0011462	Young adult onset	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0011462	HP:0011462	Young adult onset	0	USP9Y CL E G H	8287	12633	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0011462	HP:0011462	Young adult onset	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0011462	HP:0011462	Young adult onset	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0011462	HP:0011462	Young adult onset	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0011462	HP:0011462	Young adult onset	0	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W		248
HP:0011462	HP:0011462	Young adult onset	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0011462	HP:0011462	Young adult onset	0	VCY CL E G H	9084	12668	OMIM:415000	SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED		2
HP:0011462	HP:0011462	Young adult onset	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0011462	HP:0011462	Young adult onset	0	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32		1
HP:0011462	HP:0011462	Young adult onset	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011462	HP:0011462	Young adult onset	0	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1	.	47
HP:0011462	HP:0011462	Young adult onset	0	WDR19 CL E G H	57728	18340	OMIM:619867			95
HP:0011462	HP:0011462	Young adult onset	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0011462	HP:0011462	Young adult onset	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0011462	HP:0011462	Young adult onset	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0011462	HP:0011462	Young adult onset	0	ZMYND15 CL E G H	84225	20997	OMIM:615842	Spermatogenic failure 14		1
HP:0011462	HP:0011462	Young adult onset	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0011462	HP:0011462	Young adult onset	0	ZP1 CL E G H	22917	13187	OMIM:615774	Oocyte maturation defect		1
HP:0011462	HP:0011462	Young adult onset	0	ZP3 CL E G H	7784	13189	OMIM:617712	Oocyte maturation defect 3
HP:0011462	HP:0011462	Young adult onset	0	ZPBP CL E G H	11055	15662	OMIM:619799	SPERMATOGENIC FAILURE 66; SPGF66
HP:0011462	HP:0011462	Young adult onset	0	ZSWIM7 CL E G H	125150	26993	OMIM:619831	SPERMATOGENIC FAILURE 71; SPGF71
HP:0011462	HP:0025708	Early young adult onset	1	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0011462	HP:0025710	Late young adult onset	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011462	HP:0025709	Intermediate young adult onset	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0011462	HP:0025710	Late young adult onset	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0011462	HP:0025709	Intermediate young adult onset	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0011462	HP:0025710	Late young adult onset	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0011462	HP:0025708	Early young adult onset	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0011462	HP:0025708	Early young adult onset	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0011462	HP:0025709	Intermediate young adult onset	1	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0011462	HP:0025709	Intermediate young adult onset	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0011462	HP:0025710	Late young adult onset	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0011462	HP:0025708	Early young adult onset	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011462	HP:0025710	Late young adult onset	1	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0011462	HP:0025708	Early young adult onset	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0011462	HP:0025710	Late young adult onset	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0011462	HP:0025709	Intermediate young adult onset	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0011462	HP:0025710	Late young adult onset	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0011462	HP:0025708	Early young adult onset	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0011462	HP:0025710	Late young adult onset	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0011462	HP:0025708	Early young adult onset	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0011462	HP:0025710	Late young adult onset	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0011462	HP:0025710	Late young adult onset	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0011462	HP:0025708	Early young adult onset	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0011462	HP:0025708	Early young adult onset	1	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8		747
HP:0011462	HP:0025708	Early young adult onset	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0011462	HP:0025709	Intermediate young adult onset	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0011462	HP:0025710	Late young adult onset	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0011462	HP:0025710	Late young adult onset	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0011462	HP:0025708	Early young adult onset	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0011462	HP:0025709	Intermediate young adult onset	1	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11		126
HP:0011462	HP:0025708	Early young adult onset	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV		18
HP:0011462	HP:0025710	Late young adult onset	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0011462	HP:0025708	Early young adult onset	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0011462	HP:0025708	Early young adult onset	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0011462	HP:0025709	Intermediate young adult onset	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0011462	HP:0025710	Late young adult onset	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0011462	HP:0025708	Early young adult onset	1	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0011462	HP:0025708	Early young adult onset	1	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0011462	HP:0025708	Early young adult onset	1	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0011462	HP:0025708	Early young adult onset	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0011462	HP:0025708	Early young adult onset	1	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0011462	HP:0025708	Early young adult onset	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0011462	HP:0025708	Early young adult onset	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0011462	HP:0025708	Early young adult onset	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0011462	HP:0025708	Early young adult onset	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011462	HP:0025710	Late young adult onset	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia		140
HP:0011462	HP:0025710	Late young adult onset	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0011462	HP:0025708	Early young adult onset	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0011462	HP:0025708	Early young adult onset	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0011462	HP:0025708	Early young adult onset	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0011462	HP:0025710	Late young adult onset	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0011462	HP:0025708	Early young adult onset	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0011462	HP:0025708	Early young adult onset	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0011462	HP:0025710	Late young adult onset	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0011462	HP:0025710	Late young adult onset	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0011462	HP:0025710	Late young adult onset	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia		241
HP:0011462	HP:0025710	Late young adult onset	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0011462	HP:0025710	Late young adult onset	1	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0011462	HP:0025710	Late young adult onset	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0011462	HP:0025710	Late young adult onset	1	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7		122
HP:0011462	HP:0025708	Early young adult onset	1	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0011462	HP:0025708	Early young adult onset	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0011462	HP:0025708	Early young adult onset	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0011462	HP:0025710	Late young adult onset	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011462	HP:0025709	Intermediate young adult onset	1	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1		56
HP:0011462	HP:0025708	Early young adult onset	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0011462	HP:0025708	Early young adult onset	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0011462	HP:0025708	Early young adult onset	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0011462	HP:0025708	Early young adult onset	1	SNTA1 CL E G H	6640	11167	OMIM:612955	Long QT syndrome 12		118
HP:0011462	HP:0025709	Intermediate young adult onset	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0011462	HP:0025708	Early young adult onset	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0011462	HP:0025708	Early young adult onset	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0011462	HP:0025708	Early young adult onset	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011462	HP:0025708	Early young adult onset	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0011462	HP:0025709	Intermediate young adult onset	1	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus		911
HP:0011462	HP:0025708	Early young adult onset	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0011462	HP:0025708	Early young adult onset	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0011462	HP:0025708	Early young adult onset	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0011462	HP:0025710	Late young adult onset	1	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0011462	HP:0025710	Late young adult onset	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0011462	HP:0025710	Late young adult onset	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0011462	HP:0025709	Intermediate young adult onset	1	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C

Genes (396) :AAAS AARS1 ABCA4 ABHD12 ACTA1 ACTC1 ACTG1 ACTN2 ADGRG2 AFG3L2 AIP ALDH18A1 ALDH5A1 ALG10B AMACR ANLN ANO3 ANXA11 AOPEP APC APOA1 ASTL ATL1 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATP6V0A1 ATP7B ATXN10 ATXN2 ATXN3 AURKC B2M BAG3 BAG5 BAP1 BLK BMPR2 BPY2 BVES C14ORF39 C19ORF12 C2CD6 CACNA1A CACNB4 CAPN3 CARD9 CASK CASQ2 CASR CATIP CATSPER1 CATSPER2 CAV1 CAV3 CC2D2A CCDC34 CCDC39 CCDC62 CCND1 CD164 CDH2 CDY1 CDY2A CEBPE CEP78 CFAP43 CFAP44 CFI CHCHD10 CHRNA1 CHRNA2 CLCN1 CLCN2 CLN6 COCH COL2A1 COL4A1 COL6A3 CPOX CPT2 CSF1R CTNS CYLD CYP27A1 CYP7B1 DAZ1 DAZ2 DAZ3 DDX3Y DHTKD1 DIAPH2 DIAPH3 DNAH17 DNAJB6 DNAJC3 DNAJC30 DNAJC5 DNHD1 DPY19L2 DSC2 DSG2 DSP DTNA DYSF EIF2AK2 EIF2AK4 ELMOD3 ELOVL4 ENG EPAS1 EPCAM ERCC6 F5 FBLN5 FBN1 FBXO43 FHL1 FKBP6 FKTN FLNC FN1 FOXC1 FSHB G6PD GAA GALC GANAB GARS1 GBF1 GCK GCNA GFAP GGCX GGN GIPC1 GPIHBP1 GRN GYG1 H6PD HAMP HAVCR2 HCN4 HFE HINT1 HJV HK1 HKDC1 HNRNPA1 HPRT1 HSFY1 HSPB3 HSPB8 HTRA1 ICOS IDS IFIH1 IFT140 IFT74 IKZF1 IL36RN IMPG2 INSR ITM2B JAG2 JAK2 JPH2 KCNA5 KCNC3 KCND3 KCNE1 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNK3 KCNQ1 KCTD17 KDM5D KIF5A KNG1 LAMA4 LGI1 LHB LIG3 LIPE LMF1 LMNA LMX1B LRP12 LYST MAFA MAFB MAGT1 MAK MAP1B MAPT MARS2 MATR3 MBD4 MCM6 MEFV MEI1 MEIOB MGME1 MICAL1 MORC2 MOV10L1 MSH3 MSH4 MSH5 MYBPC3 MYH6 MYH7 MYL4 MYOT MYPN NEXN NF1 NF2 NLRP3 NLRP7 NOTCH2NLC NOTCH3 NPC1 NPHP1 NPPA NR0B1 NRCAM OPTN PATL2 PDE11A PDGFRB PDHA2 PIK3R5 PKD2 PKHD1 PKP2 PLA2G6 PLG PLIN1 PLN PMP2 PMP22 PMVK PNLDC1 POF1B POLG POLRMT PPARG PPOX PPP2R3C PRDM16 PRDX3 PRKAG2 PRKAR1A PRKN PRKRA PRNP PRPF8 PRPH2 PRY PRY2 PSAP PSEN1 PSEN2 RAB39B RAF1 RAX2 RBM20 RBMY1A1 REEP1 RELN RILPL1 RIPOR2 RP1 RP2 RPGR RPL10L RPS4Y2 RRM2B RYR2 SAMD9L SCN1A SCN3B SCN4A SCN5A SCNN1G SEC23B SELENBP1 SEMA3A SERPINA1 SERPING1 SERPINH1 SETX SFTPA1 SGCD SH3BP2 SHANK3 SHOC1 SLC17A9 SLC19A2 SLC19A3 SLC22A12 SLC25A4 SLC26A8 SLC34A2 SLC37A4 SLC39A14 SLC44A4 SLC4A11 SLC4A4 SLC7A6OS SLCO2A1 SMN1 SMN2 SMPD1 SMPX SNORD118 SNTA1 SOCS1 SOST SPAG17 SPG11 SPRY2 SPTLC2 STAG3 STAT1 STOX1 STRC STT3A SYCE1 SYCP2 SYCP3 TAF4B TBC1D24 TBP TBX18 TBX3 TECRL TERB1 TERB2 TERT TGFBI THAP1 THSD4 TIA1 TIE1 TIMP3 TINF2 TLCD3B TLR7 TLR8 TMEM43 TNFAIP3 TNNC1 TNNI3 TNNT2 TOR1AIP1 TP53 TPM1 TRDN TRIM32 TRMT5 TRPV4 TTC21A TTLL5 TTN TUBB4A TULP3 TWNK TYROBP UNC13D USP9Y VAMP1 VAPB VCL VCP VCY VHL VPS11 VPS16 VSX1 WDR19 XRCC1 XRCC2 YARS1 ZMYND15 ZNF408 ZP1 ZP3 ZPBP ZSWIM7

Diseases (392) :OMIM:231550 OMIM:613287 OMIM:604116 OMIM:612674 OMIM:616852 OMIM:613424 OMIM:612098 OMIM:604717 OMIM:612158 OMIM:300985 OMIM:610246 OMIM:102200 OMIM:601162 OMIM:271980 OMIM:613688 OMIM:614307 OMIM:616032 OMIM:615034 OMIM:619733 OMIM:619565 OMIM:135290 OMIM:618463 OMIM:619643 OMIM:613708 OMIM:125370 OMIM:619810 OMIM:606693 OMIM:602481 OMIM:128235 OMIM:300911 OMIM:619971 OMIM:277900 OMIM:603516 OMIM:183090 OMIM:109150 OMIM:243060 OMIM:241600 OMIM:613881 OMIM:619747 OMIM:614327 OMIM:613375 OMIM:178600 OMIM:415000 OMIM:616812 OMIM:619203 OMIM:619202 OMIM:614298 OMIM:619805 OMIM:141500 OMIM:607682 OMIM:613855 OMIM:618129 OMIM:212050 OMIM:300908 OMIM:604772 OMIM:601198 OMIM:619379 OMIM:612997 OMIM:606721 OMIM:615343 OMIM:611818 OMIM:619845 OMIM:620084 OMIM:613807 OMIM:619803 OMIM:193300 OMIM:616969 OMIM:618920 OMIM:260570 OMIM:617236 OMIM:617592 OMIM:617593 OMIM:612923 OMIM:615048 OMIM:601462 OMIM:610353 OMIM:160800 OMIM:255700 OMIM:615651 OMIM:204300 OMIM:601369 OMIM:608805 OMIM:618564 OMIM:616411 OMIM:121300 OMIM:255110 OMIM:221820 OMIM:219750 OMIM:619132 OMIM:213700 OMIM:270800 OMIM:615025 OMIM:300511 OMIM:609129 OMIM:618643 OMIM:603511 OMIM:616192 OMIM:619382 OMIM:162350 OMIM:619712 OMIM:613958 OMIM:610476 OMIM:610193 OMIM:607450 OMIM:604169 OMIM:253601 OMIM:619687 OMIM:234810 OMIM:619500 OMIM:133190 OMIM:187300 OMIM:611783 OMIM:613244 OMIM:616946 OMIM:614389 OMIM:608895 OMIM:129600 OMIM:619696 OMIM:300696 OMIM:620103 OMIM:611615 OMIM:617047 OMIM:614065 OMIM:601894 OMIM:601631 OMIM:229070 OMIM:232300 OMIM:245200 OMIM:600666 OMIM:601472 OMIM:600794 OMIM:606483 OMIM:602485 OMIM:301077 OMIM:203450 OMIM:610842 OMIM:619826 OMIM:618940 OMIM:615947 OMIM:614706 OMIM:613507 OMIM:616199 OMIM:604931 OMIM:613313 OMIM:618398 OMIM:163800 OMIM:176200 OMIM:137200 OMIM:602390 OMIM:617460 OMIM:619614 OMIM:615424 OMIM:300322 OMIM:613376 OMIM:608673 OMIM:600142 OMIM:607594 OMIM:309900 OMIM:182250 OMIM:617781 OMIM:619585 OMIM:616873 OMIM:614204 OMIM:616152 OMIM:609968 OMIM:616079 OMIM:619566 OMIM:263300 OMIM:613873 OMIM:612240 OMIM:605259 OMIM:616399 OMIM:613695 OMIM:613239 OMIM:170390 OMIM:613485 OMIM:615344 OMIM:607554 OMIM:616398 OMIM:617921 OMIM:619363 OMIM:615235 OMIM:600512 OMIM:228300 OMIM:619780 OMIM:615980 OMIM:246650 OMIM:115200 OMIM:181350 OMIM:151660 OMIM:256020 OMIM:164310 OMIM:214500 OMIM:147630 OMIM:166300 OMIM:300853 OMIM:614181 OMIM:619808 OMIM:600274 OMIM:260540 OMIM:611390 OMIM:606070 OMIM:619975 OMIM:223100 OMIM:249100 OMIM:618431 OMIM:617706 OMIM:615084 OMIM:616688 OMIM:619878 OMIM:617100 OMIM:619938 OMIM:108420 OMIM:619937 OMIM:615396 OMIM:613251 OMIM:255160 OMIM:617280 OMIM:182920 OMIM:615248 OMIM:613122 OMIM:162210 OMIM:101000 OMIM:617772 OMIM:148200 OMIM:231090 OMIM:619473 OMIM:125310 OMIM:257220 OMIM:266900 OMIM:612201 OMIM:300200 OMIM:619833 OMIM:613435 OMIM:617743 OMIM:610475 OMIM:615007 OMIM:619828 OMIM:615217 OMIM:613095 OMIM:263200 OMIM:609040 OMIM:612953 OMIM:619360 OMIM:613877 OMIM:609909 OMIM:618279 OMIM:162500 OMIM:175800 OMIM:619528 OMIM:300604 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:619743 OMIM:604367 OMIM:618420 OMIM:615373 OMIM:619862 OMIM:194200 OMIM:610489 OMIM:600116 OMIM:612067 OMIM:603218 OMIM:600059 OMIM:608161 OMIM:619491 OMIM:613694 OMIM:613697 OMIM:311510 OMIM:615916 OMIM:620102 OMIM:613172 OMIM:610250 OMIM:619790 OMIM:607017 OMIM:180100 OMIM:312600 OMIM:304020 OMIM:619689 OMIM:613077 OMIM:600996 OMIM:619806 OMIM:609634 OMIM:613120 OMIM:608390 OMIM:601154 OMIM:618114 OMIM:224100 OMIM:618148 OMIM:614897 OMIM:613490 OMIM:106100 OMIM:610504 OMIM:602433 OMIM:619611 OMIM:606685 OMIM:118400 OMIM:613950 OMIM:619949 OMIM:616063 OMIM:249270 OMIM:607483 OMIM:220150 OMIM:609283 OMIM:606766 OMIM:265100 OMIM:619525 OMIM:144755 OMIM:617606 OMIM:217400 OMIM:604278 OMIM:619191 OMIM:167100 OMIM:614441 OMIM:253400 OMIM:271150 OMIM:607616 OMIM:301075 OMIM:614561 OMIM:612955 OMIM:619375 OMIM:269500 OMIM:619380 OMIM:602099 OMIM:616818 OMIM:613640 OMIM:615723 OMIM:614162 OMIM:609404 OMIM:619714 OMIM:616950 OMIM:258150 OMIM:270960 OMIM:615841 OMIM:616044 OMIM:607136 OMIM:143400 OMIM:181450 OMIM:614021 OMIM:619646 OMIM:619645 OMIM:613989 OMIM:121820 OMIM:602629 OMIM:619825 OMIM:619133 OMIM:619401 OMIM:136900 OMIM:613990 OMIM:619531 OMIM:301080 OMIM:301078 OMIM:604400 OMIM:616744 OMIM:611879 OMIM:613243 OMIM:613286 OMIM:611880 OMIM:601494 OMIM:115195 OMIM:617072 OMIM:260500 OMIM:611878 OMIM:254110 OMIM:616539 OMIM:606071 OMIM:618429 OMIM:615860 OMIM:608807 OMIM:128101 OMIM:619902 OMIM:221770 OMIM:608898 OMIM:108600 OMIM:608627 OMIM:182980 OMIM:611407 OMIM:167320 OMIM:619637 OMIM:619291 OMIM:148300 OMIM:619867 OMIM:617633 OMIM:619146 OMIM:608323 OMIM:615842 OMIM:616469 OMIM:615774 OMIM:617712 OMIM:619799 OMIM:619831

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen