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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Martínez-Frías syndrome
Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome