| Metadata | |
|---|---|
| ID | DOID:14693 |
| PURL | http://purl.obolibrary.org/obo/DOID_14693 Copy |
| 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 |
SNOMEDCT_US_2023_03_01:54209007 |
| 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 autosomal dominant disease is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |