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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 LOC120095693 small ubiquitin-related modifier 2-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 		OMIM
CTD
ClinVar		 PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137 More... NCBI chr11:92,667,392...92,668,480 JBrowse link
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 More... NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:4,195,400...4,245,485 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        diabetes mellitus 1683
          type 1 diabetes mellitus 388
            type 1 diabetes mellitus 5 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              glucose metabolism disease 2176
                diabetes mellitus 1683
                  type 1 diabetes mellitus 388
                    type 1 diabetes mellitus 5 2
paths to the root