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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"
Cystic fibrosis
CF · Mucoviscidosis
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
CF · Lubani-Al Saleh-Teebi syndrome
OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome
Cystic echinococcosis
Hydatid disease · Hydatidosis
Cysticercosis
Cystinosis
Protein defect of cystin transport
IgG4-related mediastinitis
Fibrosing mediastinitis · Mediastinal fibrosis