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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:Transient Neonatal Diabetes Mellitus, 3
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Accession:DOID:9001250 term browser browse the term
Synonyms:exact_synonym: TNDM3
 primary_id: MESH:C566432
 alt_id: MIM:610582


show annotations for term's descendants           Sort by:
Transient Neonatal Diabetes Mellitus, 3 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: Diabetes mellitus, transient neonatal, 3 ClinVar PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3		 CTD
ClinVar
OMIM		 PMID:2270156 PMID:2462236 PMID:8897013 PMID:9867219 PMID:10338089 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 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Infant, Newborn, Diseases 1290
          neonatal diabetes 11
            transient neonatal diabetes mellitus 9
              Transient Neonatal Diabetes Mellitus, 3 2
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            carbohydrate metabolic disorder 3410
              glucose metabolism disease 2157
                diabetes mellitus 1663
                  neonatal diabetes 11
                    transient neonatal diabetes mellitus 9
                      Transient Neonatal Diabetes Mellitus, 3 2
paths to the root