Term Name: palmoplantar keratoderma and congenital alopecia 1
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.
Ontology: Human Disease [DOID:0111244]   ( DOID:0111244 )

Relationships
is a type of: ectodermal dysplasia physical disorder