loading...| Preferred Name | glucose-galactose malabsorption | |
| Synonyms |
SGLT1 deficiency GGM monosaccharide malabsorption |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0070563 |
|
| alternative label |
SGLT1 deficiency GGM monosaccharide malabsorption |
|
| database_cross_reference |
MESH:C562602 UMLS_CUI:C0268186 GARD:6521 MIM:606824 ORDO:35710 |
|
| 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. |
|
| has close match |
MESH:C562602 UMLS_CUI:C0268186 GARD:6521 MIM:606824 ORDO:35710 |
|
| has exact match |
MESH:C562602 UMLS_CUI:C0268186 GARD:6521 MIM:606824 ORDO:35710 |
|
| has exact synonym |
SGLT1 deficiency GGM monosaccharide malabsorption |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0070563 |
|
| label |
glucose-galactose malabsorption |
|
| notation |
DOID:0070563 |
|
| note |
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. |
|
| preferred label |
glucose-galactose malabsorption |
|
| prefLabel |
glucose-galactose malabsorption |
|
| subClassOf |