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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 17
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Accession:DOID:0110754 term browser browse the term
Definition:A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. (DO)
Synonyms:exact_synonym: IDDM17;   T1D17;   insulin-dependent diabetes mellitus 17
 primary_id: MESH:C566395
 alt_id: OMIM:603266


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type 1 diabetes mellitus 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 ClinVar PMID:25741868 NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      endocrine system disease 5956
        diabetes mellitus 1369
          type 1 diabetes mellitus 285
            type 1 diabetes mellitus 17 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          inherited metabolic disorder 5437
            carbohydrate metabolic disorder 2682
              glucose metabolism disease 1513
                diabetes mellitus 1369
                  type 1 diabetes mellitus 285
                    type 1 diabetes mellitus 17 1
paths to the root