DO_rare_slim has material basis in autosomal recessive disease glucose-galactose malabsorption ORDO:35710 UMLS_CUI:C0268186 SNOMEDCT_US_2025_09_01:27943000 disease_ontology ORDO:35710 MESH:C562602 GARD:6521 UMLS_CUI:C0268186 MESH:C562602 ICD10CM:E74.39 GARD:6521 GGM MIM:606824 DOID:0070563 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. MIM:606824 SGLT1 deficiency monosaccharide malabsorption glucose metabolism disease autosomal recessive inheritance