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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"
Maple syrup urine disease
BCKD deficiency · BCKDH deficiency
Classic maple syrup urine disease
Classic BCKD deficiency · Classic MSUD
Pyruvate dehydrogenase E3-binding protein deficiency
2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency