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type 1 diabetes mellitus 12 - 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 12
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Accession:DOID:0110751 term browser browse the term
Definition:A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. (DO)
Synonyms:exact_synonym: IDDM12;   T1D12;   insulin-dependent diabetes mellitus 12
 primary_id: MESH:C563326
 alt_id: MIM:601388

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type 1 diabetes mellitus 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 12 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 12		 CTD
ClinVar
OMIM		 PMID:25213377 PMID:25329329 PMID:25741868 PMID:26884280 PMID:27102614 More... NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      endocrine system disease 7042
        diabetes mellitus 1671
          type 1 diabetes mellitus 389
            type 1 diabetes mellitus 12 1
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 12 1
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