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Metadata
ID DOID:14693
Name Clouston 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.
https://pubmed.ncbi.nlm.nih.gov/8845850/
Xrefs

GARD:2056

MESH:D004476

OMIM:129500

SNOMEDCT_US_2023_03_01:54209007

UMLS_CUI:C0162361

Subsets

DO_rare_slim

Synonyms

Clouston's hidrotic ectodermal dysplasia [EXACT]

Clouston's syndrome [EXACT]

ectodermal dysplasia 2, Clouston type [EXACT]

hidrotic ectodermal dysplasia [EXACT]

Hidrotic ectodermal dysplasia syndrome [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a autosomal dominant disease

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