Rare Disease Library

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · PPK-CA, Stevanovic type

Autosomal recessive congenital cerebellar ataxia

Autosomal recessive congenital ichthyosis

ARCI

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature

Autosomal recessive severe congenital neutropenia

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

Congenital autosomal recessive small-platelet thrombocytopenia

CARST

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Marginal papular palmoplantar keratoderma

Marginal papular palmoplantar hyperkeratosis

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris