Ectodermal Dysplasia
Disease ID: disease_node_2724
Connections displayed (default: 10).
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| Dbxref | GARD:2056, MESH:D004476, MIM:129500, SNOMEDCT_US_2023_03_01:54209007, UMLS_CUI:C0162361 |
|---|---|
| Subclassof | DOID_0050736, DOID_2121 |
| Data Source | DOID, MESH |
| Synonyms | Clouston's hidrotic ectodermal dysplasia, Clouston's syndrome, Hidrotic ectodermal dysplasia syndrome, ectodermal dysplasia 2, Clouston type, hidrotic ectodermal dysplasia |
| Mesh Id | D004476 |
| Mesh Label | Ectodermal Dysplasia |
| Mesh Subclassof | D000015, D012868, D012873 |
| Doid Label | Clouston syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_2724 |
| Doid Id | DOID_14693 |
| Label | Ectodermal Dysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)