OBO ID: DOID:0111244
Term Name: palmoplantar keratoderma and congenital alopecia 1 Search Ontology:
Synonyms:
  • autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
  • autosomal dominant palmoplantar keratoderma and congenital alopecia
  • keratoderma-hypotrichosis-leukonychia totalis syndrome
  • palmoplantar keratoderma and congenital alopecia, Stevanovic type
  • PPK-CA, Stevanovic type
  • PPKCA Stevanovic type
  • PPKCA1
Definition: An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (2)
References:
Ontology: Human Disease   (DOID:0111244)
OTHER palmoplantar keratoderma and congenital alopecia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GJA1 Palmoplantar keratoderma with congenital alopecia 104100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None