OBO ID: DOID:14693 |
Term Name: | Clouston syndrome | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:14693 ) |
OTHER Clouston syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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