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Metadata
ID DOID:0070563
Name glucose-galactose malabsorption
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.
https://pubmed.ncbi.nlm.nih.gov/20486940/
Xrefs

GARD:6521

MESH:C562602

MIM:606824

ORDO:35710

UMLS_CUI:C0268186

SKOS

exactMatch UMLS_CUI:C0268186

exactMatch MESH:C562602

exactMatch MIM:606824

exactMatch GARD:6521

exactMatch ORDO:35710

Subsets

DO_rare_slim

Synonyms

GGM [EXACT]

monosaccharide malabsorption [EXACT]

SGLT1 deficiency [EXACT]

Parent Relationships

is_a glucose metabolism disease

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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