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"

7 matching diseasesClear search ×

Malignant atrophic papulosis

MAP · Cutaneo-muco-intestinal syndrome

ORPHA:679

Brooke-Spiegler syndrome

CYLD cutaneous syndrome

ORPHA:79493

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

ORPHA:2978

Intestinal polyposis syndrome

ORPHA:104010

Kawasaki disease

Mucocutaneous lymph node syndrome

ORPHA:2331

Non-syndromic intestinal malformation

ORPHA:108967

Syndromic intestinal malformation

ORPHA:108969