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DO Term : Clouston syndrome [DOID:14693] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • UMLS_CUI:C0162361,
  • Hidrotic ectodermal dysplasia syndrome,
  • MESH:D004476,
  • Clouston's hidrotic ectodermal dysplasia,
  • SNOMEDCT_US_2023_03_01:54209007,
  • GARD:2056,
  • hidrotic ectodermal dysplasia,
  • 129500,
  • Clouston's syndrome,
  • ectodermal dysplasia 2, Clouston type,
  • OMIM:129500
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents