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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"
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Furukawa-Takagi-Nakao syndrome
22q11.2 deletion syndrome
22q11DS · CATCH 22
Nodulosis-arthropathy-osteolysis syndrome
NAO syndrome
POEMS syndrome
Crow-Fukase syndrome · Osteosclerotic myeloma