has material basis in germline mutation in RFX6 syndromic disease hereditary disease hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome https://github.com/monarch-initiative/mondo/issues/6876 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/mitchell_riley_syndrome Orphanet:293864 GARD:0005237 diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia Mitchell-Riley syndrome MTCHRS OMIM:615710 UMLS:C2748662 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome MONDO:0017400 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. MEDGEN:411637