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"

3 matching diseasesClear search ×

Long chain acyl-CoA dehydrogenase deficiency

LCAD

ORPHA:99900

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

ORPHA:90790

Littoral cell hemangioma of the spleen

Littoral cell angioma · LCA

ORPHA:673538