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
..Diminished health-related quality of life (HP:0033665)

Term ID:

33665

Name:

Diminished health-related quality of life

Synonym:

Definition:

A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.

Comments:

Reference:

HP:0033665

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:0033665	HP:0033665	Diminished health-related quality of life	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	77
HP:0033665	HP:0033667	Diminished mental health	1	CL E G H
HP:0033665	HP:0033666	Diminished physical functioning	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	77

Genes (1) :HGD

Diseases (1) :OMIM:203500

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