Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: MIM:601388



show annotations for term's descendants           Sort by:
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 19099
    disease of anatomical entity 18440
      endocrine system disease 7029
        diabetes mellitus 1663
          type 1 diabetes mellitus 384
            type 1 diabetes mellitus 12 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            carbohydrate metabolic disorder 3410
              glucose metabolism disease 2157
                diabetes mellitus 1663
                  type 1 diabetes mellitus 384
                    type 1 diabetes mellitus 12 1
paths to the root