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Clouston syndrome
Summary
- Synonym
-
- Clouston's hidrotic ectodermal dysplasia
- Clouston's syndrome
- Hidrotic ectodermal dysplasia syndrome
- ectodermal dysplasia 2, Clouston type
- hidrotic ectodermal dysplasia
- 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.
- Super Class
- autosomal dominant disease ectodermal dysplasia
External Links
- Disease Ontology
- DOID:14693
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
- GARD
- MGI genotype (from TogoID)
