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congenital sucrase-isomaltase deficiency
Summary
- Synonym
-
- CSID
- SI deficiency
- congenital sucrase-isomaltose malabsorption
- congenital sucrose intolerance
- disaccharide intolerance
- 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.
- Super Class
- autosomal recessive disease carbohydrate metabolic disorder physical disorder
External Links
- Disease Ontology
- DOID:0111633
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002014 | Diarrhea |
| HP:0002027 | Abdominal pain |
| HP:0002024 | Malabsorption |
| HP:0000787 | Nephrolithiasis |
| HP:0003593 | Infantile onset |
| HP:0000007 | Autosomal recessive inheritance |
