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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"
Histidinemia
HAL deficiency · HIS deficiency
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency
Adenylosuccinate lyase deficiency
ADSL deficiency · Adenylosuccinase deficiency
Cystathioninuria
Cystathionase deficiency · Gamma-cystathionase deficiency