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
..Progressive hypotrichosis (HP:0002296)

Term ID:

2296

Name:

Progressive hypotrichosis

Synonym:

Definition:

Progressively reduced or lacking hair growth.

Comments:

Reference:

HP:0002296

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized hypotrichosis (HP:0004528)

obsolete Hypotrichosis of the scalp (HP:0004782)

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:0002296	HP:0002296	Progressive hypotrichosis	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4

Genes (1) :NECTIN1

Diseases (1) :OMIM:225060

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