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"

8 matching diseasesClear search ×

Cutaneous mastocytoma

Cutaneous local mastocytoma · Multiple mastocytoma

ORPHA:79455

Bullous diffuse cutaneous mastocytosis

Bullous DCM

ORPHA:280785

Cutaneous mastocytosis

ORPHA:66646

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

ORPHA:2135

Diffuse cutaneous mastocytosis

DCM · Diffuse cutaneous maculopapulous mastocytosis

ORPHA:79456

Extracutaneous mastocytoma

ORPHA:66662

Maculopapular cutaneous mastocytosis

Urticaria pigmentosa

ORPHA:79457

Pseudoxanthomatous diffuse cutaneous mastocytosis

Infiltrative small vesicular DCM · Infiltrative small vesicular diffuse cutaneous mastocytosis

ORPHA:280794