Search Ontology:
Human Disease

congenital sucrase-isomaltase deficiency

Term ID
DOID:0111633
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
  • MIM:222900
  • NCI:C128190
  • ORDO:35122
  • SNOMEDCT_US_2023_03_01:78373000
  • UMLS_CUI:C1283620
Ontology
Human Disease   ( DOID:0111633 )
Relationships
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Other Pages
Genes Involved
Zebrafish Models