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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"
Beta-thalassemia major
Cooley anemia · Mediterranean anemia
Alpha-heavy chain disease
Alpha-HCD · IPSID
Boutonneuse fever
Mediterranean spotted fever
Familial Mediterranean fever
Benign paroxysmal peritonitis · Benign recurrent polyserositis
Mediterranean macrothrombocytopenia
OBSOLETE: Immunoproliferative small intestinal disease
OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma