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 quantity (HP:0011362)

Parent Node:
obsolete Hypotrichosis (HP:0001006)

..Starting node
..Generalized hypotrichosis (HP:0004528)

Term ID:

4528

Name:

Generalized hypotrichosis

Synonym:

Generalised hypotrichosis; Hypotrichosis, generalised; Hypotrichosis, generalized

Definition:

Reduced or lacking hair growth in a generalized distribution.

Comments:

Reference:

HP:0004528

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Hypotrichosis of the scalp (HP:0004782)

Progressive hypotrichosis (HP:0002296)

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:0004528	HP:0004528	Generalized hypotrichosis	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	68
HP:0004528	HP:0004528	Generalized hypotrichosis	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	56

Genes (2) :GJA1 GJB6

Diseases (2) :ORPHA:1010 ORPHA:189

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