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

• GARD:2056
• MESH:D004476
• OMIM:129500
• SNOMEDCT_US_2023_03_01:54209007
• UMLS_CUI:C0162361

Ontology

Human Disease   ( DOID:14693 )