Search Ontology:
Human Disease

Clouston syndrome

Term ID
DOID:14693
Synonyms
  • Clouston's hidrotic ectodermal dysplasia
  • Clouston's syndrome
  • ectodermal dysplasia 2, Clouston type
  • hidrotic ectodermal dysplasia
  • Hidrotic ectodermal dysplasia 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/
References
Ontology
Human Disease   ( DOID:14693 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models