FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glucose-galactose malabsorption ID (Ontology) DOID:0070563 (Human Disease)
Definition A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3.
Also Known As "GGM" ; "monosaccharide malabsorption" ; "SGLT1 deficiency"
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 Genes
 glucose-galactose malabsorption       4
 for disease ribbon | glucose-galactose malabsorption       4
 model of | glucose-galactose malabsorption       4
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
carbohydrate metabolic disorder  |
 |__glucose metabolism disease___|
                                 glucose-galactose malabsorption  4 rec.
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Is a autosomal recessive disease
glucose metabolism disease
Part of
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Synonyms
  • "GGM" EXACT OMO:0003012
    "monosaccharide malabsorption" EXACT
    "SGLT1 deficiency" EXACT
Secondary IDs
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GARD:6521
MESH:C562602
MIM:606824
ORDO:35710
UMLS_CUI:C0268186