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"

5 matching diseasesClear search ×

Pseudoxanthomatous diffuse cutaneous mastocytosis

Infiltrative small vesicular DCM · Infiltrative small vesicular diffuse cutaneous mastocytosis

ORPHA:280794

Bullous diffuse cutaneous mastocytosis

Bullous DCM

ORPHA:280785

Cutaneous mastocytosis

ORPHA:66646

Diffuse cutaneous mastocytosis

DCM · Diffuse cutaneous maculopapulous mastocytosis

ORPHA:79456

Maculopapular cutaneous mastocytosis

Urticaria pigmentosa

ORPHA:79457