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
..Middle age onset (HP:0003596)

Term ID:

3596

Name:

Middle age onset

Synonym:

Definition:

A type of adult onset with onset of symptoms at the age of 40 to 60 years.

Comments:

Reference:

HP:0003596

Genes and Diseases:

Child Nodes:

Sister Nodes:

Late onset (HP:0003584)

Young adult onset (HP:0011462)

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:0003596	HP:0003596	Middle age onset	0	APOE CL E G H	348	606889	Alzheimer disease, type 4	606889	C1847200	OMIM	1	166	613	107741
HP:0003596	HP:0003596	Middle age onset	0	PMVK CL E G H	10654	175800	Porokeratosis of Mibelli	175800	C0949506	OMIM	1	40	9141	607622
HP:0003596	HP:0003596	Middle age onset	0	PSEN2 CL E G H	5664	606889	Alzheimer disease, type 4	606889	C1847200	OMIM	1	279	9509	600759
HP:0003596	HP:0003596	Middle age onset	0	SNCA CL E G H	6622	605543	Parkinson disease 4	605543	C1854182	OMIM	1	193	11138	163890
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (4) :APOE PMVK PSEN2 SNCA

Diseases (3) :606889 175800 605543

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