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Items: 3

1.

Congenital glucose-galactose malabsorption

Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by Xin and Wang, 2011). [from OMIM]

MedGen UID:
78647
Concept ID:
C0268186
Congenital Abnormality; Disease or Syndrome
2.

Optic atrophy--spastic paraplegia syndrome

MedGen UID:
326914
Concept ID:
C1839565
Disease or Syndrome
3.

Abnormal oral glucose tolerance

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. [from HPO]

MedGen UID:
339758
Concept ID:
C1847425
Finding
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