OBO ID: DOID:0111633
Term Name: congenital sucrase-isomaltase deficiency Search Ontology:
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. (2)
References:
  • GARD:7710
  • ICD10CM:E74.31
  • MEDDRA:10066387
  • MESH:C538139
  • NCI:C128190
  • OMIM:222900
  • ORDO:35122
  • SNOMEDCT_US_2022_03_01:78373000
  • UMLS_CUI:C1283620
Ontology: Human Disease   (DOID:0111633)
OTHER congenital sucrase-isomaltase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SI Sucrase-isomaltase deficiency, congenital 222900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None