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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"
Pyruvate dehydrogenase E3 deficiency
DLD deficiency · Dihydrolipoamide dehydrogenase deficiency
Classic maple syrup urine disease
Classic BCKD deficiency · Classic MSUD
Intermediate maple syrup urine disease
Intermediate BCKD deficiency · Intermediate MSUD
Intermittent maple syrup urine disease
Intermittent BCKD deficiency · Intermittent MSUD
Maple syrup urine disease
BCKD deficiency · BCKDH deficiency
Thiamine-responsive maple syrup urine disease
Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD