loading...| Preferred Name |
Sucrase-isomaltase deficiency, congenital |
| Synonyms |
Congenital Sucrose-Isomaltose Malabsorption |
| ID |
http://purl.bioontology.org/ontology/MESH/C538139 |
| altLabel |
Congenital Sucrose-Isomaltose Malabsorption Disaccharide intolerance, 1 Sucrose Intolerance, Congenital Sucrose intolerance congenital Congenital Sucrase-Isomaltase Deficiency Congenital Sucrose Intolerance Congenital sucrose-isomaltase malabsorption Si Deficiency Sucrose-isomaltase malabsorption, congenital Disaccharide Intolerance I Sucrase-Isomaltase Deficiency Sucrose-Isomaltose Malabsorption, Congenital |
| cui |
C1283620 |
| Has mapping qualifier | |
| HM |
D002239 D013394/Q000172 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
25 |
| MMR |
20150818 |
| notation |
C538139 |
| prefLabel |
Sucrase-isomaltase deficiency, congenital |
| SC |
3 |
| Scope Statement |
Autosomal recessive mutations in the SI gene that cause a deficiency of sucrase-isomaltase. This disrupts the HYDROLYSIS of dietary SUCROSE and some of the products of STARCH digestion, which causes osmotic DIARRHEA when the DISACCHARIDE is ingested, because absorption cannot occur until after hydrolysis produces the component MONOSACCHARIDES. OMIM: 222900 |
| TERMUI |
T802408 T744852 T841197 T841195 T802409 T802410 T744857 T841196 T744856 T825502 T744854 T841198 T744855 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |