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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:Type 2 Diabetes Mellitus 1
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Accession:DOID:9007279 term browser browse the term
Synonyms:exact_synonym: NIDDM1;   T2D1;   noninsulin-dependent diabetes mellitus 1
 narrow_synonym: CAPN10-RELATED CONDITION
 related_synonym: TYPE 2 DIABETES MELLITUS 1, SUSCEPTIBILITY TO
 primary_id: MESH:C563359
 alt_id: MIM:601283


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Type 2 Diabetes Mellitus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn10 calpain 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CAPN10-related condition | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus 1, susceptibility to 		OMIM
CTD
ClinVar		 PMID:11017071 PMID:11481585 PMID:12107250 PMID:12161543 PMID:14574648 More... NCBI chr 9:100,943,665...100,957,910
Ensembl chr 9:100,945,551...100,957,912 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:261,186,119...261,186,682 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:80,390,471...80,516,285 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:207,500,962...207,557,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        diabetes mellitus 1683
          type 2 diabetes mellitus 810
            Type 2 Diabetes Mellitus 1 5
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              glucose metabolism disease 2176
                diabetes mellitus 1683
                  type 2 diabetes mellitus 810
                    Type 2 Diabetes Mellitus 1 5
paths to the root