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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:Glucose-Galactose Malabsorption
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Accession:DOID:9001750 term browser browse the term
Synonyms:exact_synonym: CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION;   Carbohydrate Intolerance;   Complex Carbohydrate Intolerance;   GGM;   GM;   Monosaccharide Malabsorption
 primary_id: MESH:C562602;   RDO:0012246
 alt_id: OMIM:606824
For additional species annotation, visit the Alliance of Genome Resources.



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Glucose-Galactose Malabsorption term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption OMIM
ClinVar
PMID:2008213 PMID:8563765 PMID:8844006 PMID:9309206 PMID:9536098 More... NCBI chr14:77,553,990...77,618,589
Ensembl chr14:77,553,843...77,618,547
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      Malabsorption Syndromes 196
        Glucose-Galactose Malabsorption 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              Glucose-Galactose Malabsorption 1
paths to the root