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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"
Beta-ketothiolase deficiency
3-ketothiolase deficiency · 3-oxothiolase deficiency
2-aminoadipic 2-oxoadipic aciduria
Alpha-aminoadipic aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
3-methylglutaconic aciduria
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
HIBCH deficiency · Methacrylic aciduria