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| Term | Clouston syndrome | ID (Ontology) | DOID:14693 (Human Disease) |
| 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. | ||
| Also Known As | "Clouston's hidrotic ectodermal dysplasia" ; "Clouston's syndrome" ; "ectodermal dysplasia 2, Clouston type" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__ectodermal dysplasia________| Clouston syndrome |
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| Is a |
autosomal dominant disease ectodermal dysplasia |
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External Crossreferences & Linkouts
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GARD:2056 MESH:D004476 MIM:129500 SNOMEDCT_US_2023_03_01:54209007 UMLS_CUI:C0162361 |
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