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 ×

Fish-eye disease

FED · Partial LCAT deficiency

ORPHA:79292

Moore-Federman syndrome

Dwarfism-stiff joint-ocular abnormalities syndrome

ORPHA:2569