Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

13 matching diseasesClear search ×

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

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

ORPHA:308031

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

ORPHA:307773

Autosomal dominant palmoplantar keratoderma and congenital alopecia

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

ORPHA:1010

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

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

ORPHA:308041

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature

ORPHA:307804

Disease with diffuse palmoplantar keratoderma as a major feature

Disease with diffuse palmoplantar hyperkeratosis as a major feature

ORPHA:307711

Disease with focal palmoplantar keratoderma as a major feature

Disease with focal palmoplantar hyperkeratosis as a major feature

ORPHA:307871

Disease with punctate palmoplantar keratoderma as a major feature

Disease with punctate palmoplantar hyperkeratosis as a major feature

ORPHA:308023

Focal acral hyperkeratosis

Punctate palmoplantar hyperkeratosis type 3 without elastoidosis · Punctate palmoplantar keratoderma type 3 without elastoidosis

ORPHA:308013

Isolated punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

ORPHA:2338

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502