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
(all 5)
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
(all 9)
Ontology
Human Disease   ( DOID:0111633 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.