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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:leucine-sensitive hypoglycemia of infancy
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Accession:DOID:0112262 term browser browse the term
Definition:An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. (DO)
Synonyms:exact_synonym: LIH;   leucine-induced hypoglycemia
 alt_id: DOID:9004440
 xref: EFO:0006856;   GARD:9915;   MESH:C537150;   MIM:240800;   MONDO:0009415

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leucine-sensitive hypoglycemia of infancy 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 term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy OMIM
ClinVar		 PMID:7908292 PMID:8650576 PMID:8923011 PMID:9382893 PMID:9648840 More... NCBI chrNW_004955414:32,216,243...32,289,028
Ensembl chrNW_004955414:32,216,196...32,289,053 		JBrowse link
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: Leucine-induced hypoglycemia ClinVar PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532 NCBI chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    Nutritional and Metabolic Diseases 6969
      disease of metabolism 6969
        inherited metabolic disorder 5513
          amino acid metabolic disorder 1476
            leucine-sensitive hypoglycemia of infancy 2
Path 2
Term Annotations click to browse term
  disease 14316
    Developmental Disease 12568
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11797
        genetic disease 11523
          inherited metabolic disorder 5513
            carbohydrate metabolic disorder 2661
              glucose metabolism disease 1474
                hypoglycemia 89
                  leucine-sensitive hypoglycemia of infancy 2
paths to the root