Metadata | |
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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 | |
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 | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |