loading...| Preferred Name |
Clouston syndrome |
|
| Synonyms |
ectodermal dysplasia 2, Clouston type Clouston's hidrotic ectodermal dysplasia |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14693 |
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| Obsolete |
true |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
MESH:D004476 SNOMEDCT_US_2023_03_01:54209007 UMLS_CUI:C0162361 OMIM:129500 GARD:2056 |
|
| 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. |
|
| has exact synonym |
Clouston's hidrotic ectodermal dysplasia Clouston's syndrome hidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14693 |
|
| in_subset | ||
| label |
Clouston syndrome |
|
| notation |
DOID:14693 |
|
| owl:deprecated |
true |
|
| prefLabel |
Clouston syndrome |
|
| subClassOf |