|
DOID:0111633 - congenital sucrase-isomaltase deficiency
Disease Ontology 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.
Synonyms: congenital sucrase-isomaltose malabsorption, congenital sucrose intolerance, CSID, disaccharide intolerance, SI deficiency
Xenbase Genes
:
si
| MIM:222900 - SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive disease (is_a),
carbohydrate metabolic disorder (is_a),
physical disorder (is_a)