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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital sucrase-isomaltase deficiency
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Accession:DOID:0111633 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CSID;   Congenital Sucrose-Isomaltose Malabsorption;   Congenital sucrose-isomaltase malabsorption;   Disaccharide Intolerance I;   Disaccharide intolerance, 1;   SI deficiency;   congenital sucrase-isomaltose malabsorption;   congenital sucrose intolerance;   disaccharide intolerance;   sucrase-isomaltase deficiency
 primary_id: MESH:C538139
 alt_id: OMIM:222900
 xref: GARD:7710;   ICD10CM:E74.31;   NCI:C128190;   ORDO:35122
For additional species annotation, visit the Alliance of Genome Resources.

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congenital sucrase-isomaltase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Si sucrase-isomaltase ISO ClinVar Annotator: match by OMIM:222900
ClinVar Annotator: match by term: Sucrase-isomaltase deficiency
PMID:8609217 PMID:10903344 PMID:11340066 PMID:14724820 PMID:16329100 PMID:19121318 PMID:19680155 PMID:23103650 PMID:24033266 PMID:25741868 PMID:26812950 PMID:27579322 PMID:27749612 PMID:27872184 PMID:28492532 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital sucrase-isomaltase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                congenital sucrase-isomaltase deficiency 1
paths to the root