Disease association ontology term - MONDO:0009114 - congenital sucrase-isomaltase deficiency
Term summary
- ID
- MONDO:0009114
- Name
- congenital sucrase-isomaltase deficiency
- Ontology or CV name
- Disease association
- Definition
- A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.