|
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 syndrome, Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome (disorder), ectodermal dysplasia 2, Clouston type, hidrotic ectodermal dysplasia,
Xenbase Genes : edar, ikbkg, edaradd, kdf1, eda
MONDO:0007510 - Clouston syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee