Clouston syndrome

Summary

DOID:14693 - Clouston syndrome

Disease Ontology Definition:An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.

Synonyms: Clouston's hidrotic ectodermal dysplasia, Clouston's hidrotic ectodermal dysplasia , Clouston's syndrome, ectodermal dysplasia 2, Clouston type, hidrotic ectodermal dysplasia, Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome (disorder)

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: edar, ikbkg, edaradd, kdf1, eda

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007510 - Clouston syndrome

MONDO:0007510 - Clouston syndrome

MIM:

MIM:129500 - CLOUSTON SYNDROME

MIM:129500 - CLOUSTON SYNDROME

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), ectodermal dysplasia (is_a)