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"

3 matching diseasesClear search ×

Cronkhite-Canada syndrome

Gastrointestinal polyposis-ectodermal changes syndrome · Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome

ORPHA:2930

Intestinal polyposis syndrome

ORPHA:104010

Juvenile polyposis syndrome

JIP · JPS

ORPHA:2929