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:
Abnormality of hair pigmentation (HP:0009887)

Grandparent Node:
Prematurely aged appearance (HP:0007495)

Parent Node:
Premature graying of hair (HP:0002216)

..Starting node
..Premature graying of body hair (HP:0004771)

Term ID:

4771

Name:

Premature graying of body hair

Synonym:

Premature graying of body hair; Premature greying of body hair

Definition:

Comments:

Reference:

HP:0004771

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004771	HP:0004771	Premature graying of body hair	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13

Genes (1) :DSTYK

Diseases (1) :OMIM:270750

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