has characteristic has characteristic has material basis in germline mutation in SI intestinal disaccharidase deficiency congenital sucrase-isomaltase deficiency https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption https://www.malacards.org/card/sucrase_isomaltase_deficiency_congenital congenital sucrase-isomaltase deficiency MESH:C538139 sucrase-isomaltase deficiency ICD9:271.3 MONDO:0009114 Orphanet:35122 A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose. NORD:1056 NCIT:C128190 genetic sucrase-isomaltose malabsorption OMIM:222900 DOID:0111633 SCTID:78373000 sucrose-isomaltase malabsorption, congenital congenital sucrose intolerance icd11.foundation:1817406536 disaccharide intolerance, 1 MEDGEN:220924 disaccharide intolerance sucrose isomaltose enzyme deficiency sucrose intolerance congenital MedDRA:10066387 NANDO:2200908 GARD:0006183 CSID UMLS:C1283620 congenital sucrose-isomaltase malabsorption sucrase-isomaltase deficiency, congenital disorder of carbohydrate transmembrane transport and absorption congenital