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 ×

OBSOLETE: Immunoproliferative small intestinal disease

OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma

ORPHA:103915

Alpha-heavy chain disease

Alpha-HCD · IPSID

ORPHA:100025

Beta-thalassemia major

Cooley anemia · Mediterranean anemia

ORPHA:231214

OBSOLETE: HIV-related Hodgkin lymphoma

ORPHA:443316

OBSOLETE: Lymphedema

ORPHA:79383

OBSOLETE: Lymphomatous meningitis

ORPHA:329998

OBSOLETE: Mediterranean spotted fever

ORPHA:101338