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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 1 diabetes mellitus 2
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Accession:DOID:0110741 term browser browse the term
Definition:A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: IDDM2;   T1D2;   insulin-dependent diabetes mellitus 2
 primary_id: MESH:C565100
 alt_id: MIM:125852

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type 1 diabetes mellitus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF2 insulin like growth factor 2 ISO OMIM:125852 MouseDO NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More... NCBI chr 1:1,965,128...1,969,090 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 chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921 		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 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15342
    Nutritional and Metabolic Diseases 7357
      disease of metabolism 7357
        inherited metabolic disorder 5829
          type 1 diabetes mellitus 2 4
Path 2
Term Annotations click to browse term
  disease 15342
    Developmental Disease 13376
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12500
        genetic disease 12198
          inherited metabolic disorder 5829
            carbohydrate metabolic disorder 2795
              glucose metabolism disease 1556
                diabetes mellitus 1329
                  type 1 diabetes mellitus 281
                    type 1 diabetes mellitus 2 4
paths to the root