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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 2
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Accession:DOID:0110741 term browser browse the term
Definition:A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: IDDM2;   T1D2;   insulin-dependent diabetes mellitus 2
 primary_id: MESH:C565100
 alt_id: OMIM:125852
For additional species annotation, visit the Alliance of Genome Resources.


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type 1 diabetes mellitus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISS OMIM:125852 MouseDO NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 2 ClinVar PMID:17855560, PMID:18192540, PMID:18414213 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by OMIM:125852
DNA:missense mutation:cds:p.C96Y (mouse)
ClinVar
OMIM
PMID:17855560, PMID:18192540, PMID:18414213, PMID:17911348 RGD:14401710 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      endocrine system disease 4991
        diabetes mellitus 1366
          type 1 diabetes mellitus 305
            type 1 diabetes mellitus 2 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Immune & Inflammatory Diseases 3504
        immune system disease 2921
          primary immunodeficiency disease 2340
            autoimmune disease 1661
              autoimmune disease of endocrine system 371
                type 1 diabetes mellitus 305
                  type 1 diabetes mellitus 2 3
paths to the root

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