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"

146 matching diseasesClear search ×

Transient infantile hypertriglyceridemia and hepatosteatosis

Transient infantile hypertriglyceridemia and fatty liver

ORPHA:300293

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

ORPHA:1018