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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;   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
OMIM
ClinVar
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 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          carbohydrate metabolic disorder 386
            congenital sucrase-isomaltase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                congenital sucrase-isomaltase deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.