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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"
Neuroferritinopathy
Adult basal ganglia disease · Ferritin-related neurodegeneration
Beta-propeller protein-associated neurodegeneration
BPAN · NBIA5
COASY protein-associated neurodegeneration
CoPAN · NBIA6
Infantile neuroaxonal dystrophy
INAD · INAD1
Neurodegeneration with brain iron accumulation
NBIA
PLA2G6-associated neurodegeneration
PLAN