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loading...| Preferred Name |
SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL |
| Synonyms |
SUCROSE INTOLERANCE, CONGENITAL |
| ID |
http://purl.bioontology.org/ontology/OMIM/222900 |
| altLabel |
SUCROSE INTOLERANCE, CONGENITAL SUCROSE-ISOMALTOSE MALABSORPTION, CONGENITAL SI DEFICIENCY DISACCHARIDE INTOLERANCE I CSID |
| cui |
C1283620 |
| Gene Locus |
3q25-q26 |
| Gene Symbol |
SI |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU065298 http://purl.bioontology.org/ontology/OMIM/MTHU005166 http://purl.bioontology.org/ontology/OMIM/MTHU008708 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
222900 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL |
| Scope Statement |
Caused by mutation in the sucrase-isomaltase gene (SI, 609845.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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