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"

7 matching diseasesClear search ×

Alpha-heavy chain disease

Alpha-HCD · IPSID

ORPHA:100025

Beta-thalassemia major

Cooley anemia · Mediterranean anemia

ORPHA:231214

Boutonneuse fever

Mediterranean spotted fever

ORPHA:83313

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

ORPHA:342

Lymphoma

ORPHA:223735

MALT lymphoma

Extranodal marginal zone B-cell lymphoma · MALToma

ORPHA:52417

OBSOLETE: Immunoproliferative small intestinal disease

OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma

ORPHA:103915