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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"
Thiamine-responsive maple syrup urine disease
Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD
Biotin-thiamine-responsive basal ganglia disease
BBGD · BTBGD
Thiamine-responsive encephalopathy
Thiamine-responsive megaloblastic anemia syndrome
Rogers syndrome · TRMA