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

..Starting node
..Late young adult onset (HP:0025710)

Term ID:

25710

Name:

Late young adult onset

Synonym:

Definition:

Onset of disease at an age of greater than or equal to 25 to under 40 years.

Comments:

Reference:

HP:0025710

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025710	HP:0025710	Late young adult onset	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0025710	HP:0025710	Late young adult onset	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	315
HP:0025710	HP:0025710	Late young adult onset	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	14
HP:0025710	HP:0025710	Late young adult onset	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	146
HP:0025710	HP:0025710	Late young adult onset	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9	148
HP:0025710	HP:0025710	Late young adult onset	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	11
HP:0025710	HP:0025710	Late young adult onset	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	188
HP:0025710	HP:0025710	Late young adult onset	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia	44
HP:0025710	HP:0025710	Late young adult onset	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	149
HP:0025710	HP:0025710	Late young adult onset	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	114
HP:0025710	HP:0025710	Late young adult onset	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8	170
HP:0025710	HP:0025710	Late young adult onset	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	188
HP:0025710	HP:0025710	Late young adult onset	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	8
HP:0025710	HP:0025710	Late young adult onset	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7	38
HP:0025710	HP:0025710	Late young adult onset	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	140
HP:0025710	HP:0025710	Late young adult onset	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	1269
HP:0025710	HP:0025710	Late 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:0025710	HP:0025710	Late young adult onset	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	159
HP:0025710	HP:0025710	Late young adult onset	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U	241
HP:0025710	HP:0025710	Late young adult onset	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	241
HP:0025710	HP:0025710	Late young adult onset	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V	59
HP:0025710	HP:0025710	Late young adult onset	0	RAX2 CL E G H	84839	18286	OMIM:620102		52
HP:0025710	HP:0025710	Late young adult onset	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49	4
HP:0025710	HP:0025710	Late young adult onset	0	SCN3B CL E G H	55800	20665	OMIM:613120	Brugada syndrome 7	122
HP:0025710	HP:0025710	Late young adult onset	0	SLC22A12 CL E G H	116085	17989	OMIM:220150	Hypouricemia, renal, 1	56
HP:0025710	HP:0025710	Late 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:0025710	HP:0025710	Late 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:0025710	HP:0025710	Late young adult onset	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	4

Genes (27) :ANXA11 ATP7B ATXN3 CACNB4 CAV3 CHCHD10 CHRNA2 CLCN2 CSF1R CYP27A1 EPCAM GFAP H6PD KCNA5 MAPT MYH7 POLG PRPH2 PSEN1 PSEN2 RAX2 SAMD9L SCN3B SLC22A12 VAPB VCP XRCC1

Diseases (27) :OMIM:619733 OMIM:277900 OMIM:109150 OMIM:607682 OMIM:611818 OMIM:615048 OMIM:610353 OMIM:615651 OMIM:221820 OMIM:213700 OMIM:613244 OMIM:203450 OMIM:604931 OMIM:612240 OMIM:600274 OMIM:255160 OMIM:157640 OMIM:608161 OMIM:613694 OMIM:613697 OMIM:620102 OMIM:619806 OMIM:613120 OMIM:220150 OMIM:182980 OMIM:167320 OMIM:617633

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

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