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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: OMIM: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 ClinVar Annotator: match by term: Type 1 diabetes mellitus 12
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 9:62,318,874...62,325,978
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 18969
    disease of anatomical entity 18248
      endocrine system disease 6819
        diabetes mellitus 1662
          type 1 diabetes mellitus 384
            type 1 diabetes mellitus 12 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          inherited metabolic disorder 6257
            carbohydrate metabolic disorder 3309
              glucose metabolism disease 2114
                diabetes mellitus 1662
                  type 1 diabetes mellitus 384
                    type 1 diabetes mellitus 12 1
paths to the root