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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
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Accession:DOID:0060334 term browser browse the term
Definition:A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. (DO)
Synonyms:exact_synonym: DMTN;   TNDM
 narrow_synonym: autosomal recessive transient neonatal diabetes mellitus;   transient neonatal diabetes, dominant;   transient neonatal diabetes, dominant/recessive;   transient neonatal diabetes, recessive
 xref: EFO:0020032;   EFO:0020040;   GARD:1839;   ORDO:99886


show annotations for term's descendants           Sort by:
transient neonatal diabetes mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISS
ISO		 OMIM:601410 | OMIM:610374 | OMIM:610582
ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus		 MouseDO
ClinVar		 PMID:1021286 PMID:2198959 PMID:8751851 PMID:8923011 PMID:9519757 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar PMID:25741868 PMID:32906201 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035 		JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar PMID:7555485 PMID:8068341 PMID:8325892 PMID:8349034 PMID:8433729 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar PMID:25741868 PMID:27899417 PMID:28492532 PMID:29146476 PMID:29992946 More... NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus		 ClinVar PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20938745 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive ClinVar PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20938745 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive ClinVar PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:22572540 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Zfp57 zinc finger protein 57 ISO ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive ClinVar PMID:18414213 PMID:18622393 PMID:23748067 PMID:25741868 PMID:28492532 More... NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846 		JBrowse link
Transient Neonatal Diabetes Mellitus, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp57 zinc finger protein 57 ISO ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18197189 PMID:18414213 PMID:18622393 PMID:23499433 PMID:23748067 More... NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846 		JBrowse link
Transient Neonatal Diabetes Mellitus, 2 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2		 OMIM
CTD
ClinVar		 PMID:1021286 PMID:7908292 PMID:8650576 PMID:8923011 PMID:9075812 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 ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 ClinVar PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
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
OMIM
ClinVar		 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, 1 1
              Transient Neonatal Diabetes Mellitus, 2 2
              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, 1 1
                      Transient Neonatal Diabetes Mellitus, 2 2
                      Transient Neonatal Diabetes Mellitus, 3 2
paths to the root