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type 1 diabetes mellitus 2 - Ontology Report - Rat Genome Database

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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 ISS OMIM:125852 MouseDO NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		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 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO DNA:missense mutation:cds:p.C96Y (mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Type 1 diabetes mellitus 2		 OMIM
CTD
ClinVar
RGD		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... RGD:14401710 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		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 8:71,509,635...71,635,464 		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 1:198,071,503...198,109,767 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        inherited metabolic disorder 6628
          type 1 diabetes mellitus 2 5
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            carbohydrate metabolic disorder 3419
              glucose metabolism disease 2164
                diabetes mellitus 1671
                  type 1 diabetes mellitus 389
                    type 1 diabetes mellitus 2 5
paths to the root