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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"
Homocystinuria due to cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency
Beta-ureidopropionase deficiency
Beta-alanine synthase deficiency
Cystathioninuria
Cystathionase deficiency · Gamma-cystathionase deficiency
Homocystinuria without methylmalonic aciduria
Functional methionine synthase deficiency · Methylcobalamin deficiency