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:
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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0011462	HP:0011462	Young adult onset	0	ACTG1 CL E G H	71	604717	Deafness, autosomal dominant 20	604717	C1858172	OMIM	1	499	144	102560
HP:0011462	HP:0011462	Young adult onset	0	ATP1A3 CL E G H	478	128235	Dystonia 12	128235	C1868681	OMIM	1	993	801	182350
HP:0011462	HP:0011462	Young adult onset	0	COCH CL E G H	1690	601369	Deafness, autosomal dominant 9	601369	C1832425	OMIM	1	242	2180	603196
HP:0011462	HP:0011462	Young adult onset	0	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	243	13586	605648
HP:0011462	HP:0011462	Young adult onset	0	HJV CL E G H	148738	602390	Hemochromatosis type 2A	602390	C1865614	OMIM	1	470	4887	608374
HP:0011462	HP:0011462	Young adult onset	0	TNNI3 CL E G H	7137	611880	Dilated cardiomyopathy 2A	611880	C2678474	OMIM	1	655	11947	191044
HP:0011462	HP:0011462	Young adult onset	0	VSX1 CL E G H	30813	148300	Keratoconus 1	148300	C1835677	OMIM	1	130	12723	605020
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (7) :ACTG1 ATP1A3 COCH FBXO7 HJV TNNI3 VSX1

Diseases (7) :604717 128235 601369 260300 602390 611880 148300

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