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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 5
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Accession:DOID:0110744 term browser browse the term
Definition:A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. (DO)
Synonyms:exact_synonym: IDDM5;   T1D5;   insulin-dependent diabetes mellitus 5
 primary_id: MESH:C563958
 alt_id: MIM:600320

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type 1 diabetes mellitus 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 ClinVar PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 NCBI chr13:22,234,736...22,312,985
Ensembl chr13:22,234,012...22,282,562 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      endocrine system disease 6090
        diabetes mellitus 1332
          type 1 diabetes mellitus 281
            type 1 diabetes mellitus 5 1
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        genetic disease 12270
          inherited metabolic disorder 5834
            carbohydrate metabolic disorder 2798
              glucose metabolism disease 1558
                diabetes mellitus 1332
                  type 1 diabetes mellitus 281
                    type 1 diabetes mellitus 5 1
paths to the root