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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
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 term: Sucrase-isomaltase deficiency OMIM
ClinVar
PMID:9536098 PMID:16329100 PMID:17576681 PMID:19121318 PMID:19680155 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 18156
    physical disorder 4194
      congenital sucrase-isomaltase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                congenital sucrase-isomaltase deficiency 1
paths to the root