Search Ontology:
Human Disease
congenital sucrase-isomaltase deficiency
- Term ID
- DOID:0111633
- Synonyms
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- congenital sucrase-isomaltose malabsorption
- congenital sucrose intolerance
- CSID
- disaccharide intolerance
- SI deficiency
- Definition
- A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. (2)
- References
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- GARD:7710
- ICD10CM:E74.31
- MEDDRA:10066387
- MESH:C538139
- MIM:222900
- NCI:C128190
- ORDO:35122
- SNOMEDCT_US_2023_03_01:78373000
- UMLS_CUI:C1283620
- Ontology
- Human Disease ( DOID:0111633 )
- is a type of
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Genes Involved
Zebrafish Models