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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:Neonatal Hypoglycemia, Simulating Foetopathia Diabetica
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Accession:DOID:9006009 term browser browse the term
Synonyms:exact_synonym: Neonatal Hypoglycemia
 primary_id: MESH:C565484


show annotations for term's descendants           Sort by:
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 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: Neonatal hypoglycemia ClinVar PMID:10857971 PMID:16885549 PMID:17466004 PMID:21814221 PMID:25741868 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Hypoglycemia, neonatal, simulating foetopathia diabetica ClinVar PMID:15166380 PMID:16722806 PMID:21518566 PMID:25741868 PMID:28492532 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Neonatal hypoglycemia ClinVar PMID:16609879 PMID:16885549 PMID:17446535 PMID:17466004 PMID:17635943 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Infant, Newborn, Diseases 1239
          Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 3
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                hypoglycemia 95
                  Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 3
paths to the root