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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:Developmental Delay, Epilepsy, and Neonatal Diabetes
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Accession:DOID:9007447 term browser browse the term
Synonyms:exact_synonym: DEND SYNDROME
 primary_id: MESH:C565253
 alt_id: RDO:0013947
For additional species annotation, visit the Alliance of Genome Resources.


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Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: DEND syndrome ClinVar PMID:25741868 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Infant, Newborn, Diseases 547
          neonatal diabetes mellitus 10
            Developmental Delay, Epilepsy, and Neonatal Diabetes 1
Path 2
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          carbohydrate metabolism disease 1760
            glucose metabolism disease 1760
              diabetes mellitus 1366
                neonatal diabetes mellitus 10
                  Developmental Delay, Epilepsy, and Neonatal Diabetes 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.