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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"
Spontaneous intestinal perforation
Focal intestinal perforation · Isolated perforation
Multiple endocrine neoplasia type 2A
MEN2A · PTC syndrome
OBSOLETE: Congenital central diabetes insipidus
OBSOLETE: Posttraumatic diabetes insipidus