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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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;   Disaccharide intolerance, 1;   SI deficiency;   congenital sucrase-isomaltose malabsorption;   congenital sucrose intolerance;   congenital sucrose-isomaltase malabsorption;   disaccharide intolerance;   disaccharide intolerance I;   sucrase-isomaltase deficiency
 primary_id: MESH:C538139
 alt_id: OMIM:222900
 xref: GARD:7710;   ICD10CM:E74.31;   NCI:C128190;   ORDO:35122



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sucrase-isomaltase deficiency
OMIM
CTD
ClinVar
PMID:8609217 PMID:9092938 PMID:9536098 PMID:12624106 PMID:15944403 More... NCBI chr 2:157,505,893...157,586,228
Ensembl chr 2:157,506,342...157,585,260
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    physical disorder 4940
      congenital sucrase-isomaltase deficiency 1
Path 2
Term Annotations click to browse term
  disease 21142
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            autosomal genetic disease 9422
              autosomal recessive disease 6503
                congenital sucrase-isomaltase deficiency 1
paths to the root