autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0017666
diffuse palmoplantar keratoderma
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
PPK-CA, Wallis type
exact
PPKCA2
related
autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
exact
cass
related
cataract, alopecia, sclerodactyly
related
cataract, alopecia, sclerodactyly syndrome
related
cataract-alopecia-sclerodactyly syndrome
exact
palmoplantar keratoderma and congenital alopecia 2
related
palmoplantar keratoderma and congenital alopecia type 2
exact
palmoplantar keratoderma and congenital alopecia, Wallis type
exact