Term Name: | Clouston syndrome |
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Synonyms: | Clouston's hidrotic ectodermal dysplasia, Clouston's syndrome, ectodermal dysplasia 2, Clouston type, hidrotic ectodermal dysplasia, Hidrotic ectodermal dysplasia syndrome |
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. |
Ontology: | Human Disease [DOID:14693] ( DOID:14693 ) |