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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Ectodermal dysplasia (HP:0000968)

..Starting node
..Anhidrotic ectodermal dysplasia (HP:0007476)

Term ID:

7476

Name:

Anhidrotic ectodermal dysplasia

Synonym:

Definition:

Comments:

Reference:

HP:0007476

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hair-nail ectodermal dysplasia (HP:0007436)

Hidrotic ectodermal dysplasia (HP:0007529)

Hypohidrotic ectodermal dysplasia (HP:0007607)

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:0007476	HP:0007476	Anhidrotic ectodermal dysplasia	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0007476	HP:0007476	Anhidrotic ectodermal dysplasia	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140

Genes (2) :NFKBIA TP63

Diseases (2) :OMIM:612132 OMIM:129400

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