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 ×

Peters plus syndrome

Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome

ORPHA:709

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289