Term Name: congenital sucrase-isomaltase deficiency
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 )

Relationships
is a type of: autosomal recessive disease carbohydrate metabolic disorder physical disorder