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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"
Malignant atrophic papulosis
MAP · Cutaneo-muco-intestinal syndrome
Brooke-Spiegler syndrome
CYLD cutaneous syndrome
Chronic intestinal pseudoobstruction syndrome
CIPO · CIP syndrome
Intestinal polyposis syndrome
Kawasaki disease
Mucocutaneous lymph node syndrome
Non-syndromic intestinal malformation
Syndromic intestinal malformation