Rare Disease Library

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 matching diseasesClear search ×

Tricarboxylic acid cycle disorder

Citric acid cycle disorder · Krebs cycle disorder

ORPHA:254749

Disorder of the gamma-glutamyl cycle

ORPHA:79196