OBO ID: DOID:0111245
Term Name: palmoplantar keratoderma and congenital alopecia 2 Search Ontology:
Synonyms:
  • autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
  • autosomal recessive palmoplantar keratoderma and congenital alopecia
  • CASS
  • cataract-alopecia-sclerodactyly syndrome
  • palmoplantar keratoderma and congenital alopecia, Wallis type
  • PPK-CA, Wallis type
  • PPKCA Wallis type
  • PPKCA2
Definition: An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. https://www.ncbi.nlm.nih.gov/pubmed/20635335
References:
Ontology: Human Disease   ( DOID:0111245 )
OTHER palmoplantar keratoderma and congenital alopecia 2 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None