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"

12 matching diseasesClear search ×

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

ORPHA:34217

Carvajal syndrome

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

ORPHA:65282

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

ORPHA:307141

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

ORPHA:307837

Hereditary painful callosities

Keratosis palmoplantaris nummularis · PPK nummularis

ORPHA:79141

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Inherited arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy · ACM

ORPHA:247

Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ALVC · Arrhythmogenic cardiomyopathy dominant-left variant

ORPHA:293888

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

Arrhythmogenic cardiomyopathy dominant-right variant · Arrhythmogenic cardiomyopathy with right ventricular involvement

ORPHA:293910

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

Striate palmoplantar keratoderma

Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters

ORPHA:50942