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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"
OBSOLETE: Hereditary pediatric Behçet-like disease
OBSOLETE: Behçet-like disease due to HA20 · OBSOLETE: Behçet-like disease due to haploinsufficiency of A20
Combined immunodeficiency due to RELA haploinsufficiency
RELA-associated inflammatory disease · CID due to RELA haploinsufficiency