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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"
2-aminoadipic 2-oxoadipic aciduria
Alpha-aminoadipic aciduria
Beta-ketothiolase deficiency
3-ketothiolase deficiency · 3-oxothiolase deficiency
Dicarboxylic aminoaciduria
Glutamate-aspartate transport defect
Lysinuric protein intolerance
LPI · Hyperdibasic aminoaciduria