About   Help   FAQ
Disease Ontology Browser
Clouston syndrome (DOID:14693)
Alliance: disease page
Synonyms: Clouston's hidrotic ectodermal dysplasia; Clouston's syndrome; ectodermal dysplasia 2, Clouston type; hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome
Alt IDs: OMIM:129500, MESH:D004476, UMLS_CUI:C0162361
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory