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:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormality of hair growth (HP:0040170)

..Starting node
..Loose anagen hair (HP:0040169)

Term ID:

40169

Name:

Loose anagen hair

Synonym:

Definition:

Comments:

Reference:

HP:0040169

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of hair growth rate (HP:0011363)

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:0040169	HP:0040169	Loose anagen hair	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1	74

Genes (1) :SHOC2

Diseases (1) :OMIM:607721

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