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"

4 matching diseasesClear search ×

Carvajal syndrome

Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

ORPHA:65282

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

ORPHA:34217

Syndrome with woolly hair

ORPHA:434809

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686