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 ×

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

ORPHA:661

Crimean-Congo hemorrhagic fever

CCHF · Congo fever

ORPHA:99827