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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)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory