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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:Hypoglycemia, Leucine-Induced
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Accession:DOID:9004440 term browser browse the term
Synonyms:exact_synonym: LIH;   Leucine-sensitive hypoglycemia of infancy
 primary_id: MESH:C537150;   RDO:0002931
 alt_id: OMIM:240800
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hypoglycemia, Leucine-Induced term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by OMIM:240800
ClinVar Annotator: match by term: Leucine-induced hypoglycemia
OMIM
ClinVar
PMID:15356046, PMID:25741868 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        glucose metabolism disease 1763
          hypoglycemia 44
            Hypoglycemia, Leucine-Induced 1
Path 2
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          carbohydrate metabolism disease 1763
            glucose metabolism disease 1763
              hypoglycemia 44
                Hypoglycemia, Leucine-Induced 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.