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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"
Familial Mediterranean fever
Benign paroxysmal peritonitis · Benign recurrent polyserositis
Familial adenomatous polyposis
Colorectal adenomatous polyposis · FAP
Familial paroxysmal ataxia
Episodic ataxia type 2
Paroxysmal kinesigenic dyskinesia
Familial PKD · Familial paroxysmal kinesigenic dyskinesia