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
..Atrichia (HP:0500262)

Term ID:

500262

Name:

Atrichia

Synonym:

Definition:

The most dramatic and severe form of hair loss characterized by an absence of hair follicles.

Comments:

Reference:

HP:0500262

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:0500262	HP:0500262	Atrichia	0	HOXC13 CL E G H	3229	5125	OMIM:614931	Ectodermal dysplasia 9, Hair/nail type	.	3
HP:0500262	HP:0500262	Atrichia	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1

Genes (2) :HOXC13 SREBF1

Diseases (2) :OMIM:614931 OMIM:619016

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