OBO ID: DOID:14693
Term Name: Clouston syndrome Search Ontology:
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 Clouston syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJB2 Ectodermal dysplasia 2, Clouston type 129500
GJB6 Ectodermal dysplasia 2, Clouston type 129500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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