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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 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Infant, Newborn, Diseases 557
          neonatal diabetes 10
            Developmental Delay, Epilepsy, and Neonatal Diabetes 1
Path 2
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        acquired metabolic disease 2883
          carbohydrate metabolism disease 1792
            glucose metabolism disease 1792
              diabetes mellitus 1398
                neonatal diabetes 10
                  Developmental Delay, Epilepsy, and Neonatal Diabetes 1
paths to the root