Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 SUR1 on chromosome 11p15.1. (DO)
Synonyms:exact_synonym: Hypoglycemia, Leucine-Induced;   LIH
 primary_id: MESH:C537150
 alt_id: DOID:9004440;   OMIM:240800
 xref: GARD:9915
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        glucose metabolism disease 1792
          hypoglycemia 42
            leucine-sensitive hypoglycemia of infancy 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                leucine-sensitive hypoglycemia of infancy 1
paths to the root