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
..Death in middle age (HP:0033764)

Term ID:

33764

Name:

Death in middle age

Synonym:

Definition:

Death between the age of 40 and 60 years.

Comments:

Reference:

HP:0033764

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:0033764	HP:0033764	Death in middle age	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14	452
HP:0033764	HP:0033764	Death in middle age	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff	180

Genes (2) :MYH6 TNNI3

Diseases (2) :OMIM:613251 OMIM:613286

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