Term Name: | congenital sucrase-isomaltase deficiency |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111633] ( DOID:0111633 ) |