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1.

Martinez-Frias syndrome

The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010). [from OMIM]

MedGen UID:
318628
Concept ID:
C1832443
Disease or Syndrome
2.

Hypoplasia of the gallbladder

The presence of a hypoplastic gallbladder. [from HPO]

MedGen UID:
488880
Concept ID:
C0345282
Congenital Abnormality

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