FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital sucrase-isomaltase deficiency ID (Ontology) DOID:0111633 (Human Disease)
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.
Also Known As "congenital sucrase-isomaltose malabsorption" ; "congenital sucrose intolerance" ; "CSID" (for all, see Synonyms field below)
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 Genes
 congenital sucrase-isomaltase deficiency       1
 for disease ribbon | congenital sucrase-isomaltase deficiency       1
 model of | congenital sucrase-isomaltase deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
disease                              |
 |__physical disorder________________|
inherited metabolic disorder         |
 |__carbohydrate metabolic disorder__|
                                     congenital sucrase-isomaltase deficiency  1 rec.
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Is a autosomal recessive disease
physical disorder
carbohydrate metabolic disorder
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Synonyms
  • "congenital sucrase-isomaltose malabsorption" EXACT
    "congenital sucrose intolerance" EXACT
    "CSID" EXACT OMO:0003012
    "disaccharide intolerance" EXACT
    "SI deficiency" EXACT
Secondary IDs
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GARD:7710
ICD10CM:E74.31
MEDDRA:10066387
MESH:C538139
MIM:222900
NCI:C128190
ORDO:35122
SNOMEDCT_US_2023_03_01:78373000
UMLS_CUI:C1283620