PPK-CA, Stevanovic typeautosomal dominant palmoplantar keratoderma and congenital alopeciaPPKCA1PPKCA Stevanovic typekeratoderma-hypotrichosis-leukonychia totalis syndromeautosomal dominant palmoplantar hyperkeratosis and congenital alopeciapalmoplantar keratoderma and congenital alopecia, Stevanovic type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.