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 ×

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

ORPHA:190

Familial cerebral saccular aneurysm

Familial berry aneurysm · Familial intracranial saccular aneurysm

ORPHA:231160