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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:hereditary diffuse gastric cancer
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Accession:DOID:0080764 term browser browse the term
Definition:A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. (DO)
Synonyms:exact_synonym: familial diffuse gastric cancer;   hereditary diffuse gastric cancers
 primary_id: OMIM:137215
 xref: GARD:10900
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary diffuse gastric cancer term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Hereditary diffuse gastric cancer ClinVar
OMIM
PMID:2317870 PMID:2449335 PMID:8033105 PMID:8075649 PMID:8127895 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Il1b interleukin 1 beta ISO OMIM NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO OMIM NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary diffuse gastric cancer OMIM
ClinVar
PMID:12110640 PMID:14982869 PMID:17056636 PMID:17324647 PMID:18628094 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of cellular proliferation 7034
      Neoplasms by Site 6676
        organ system cancer 4821
          gastrointestinal system cancer 2527
            stomach cancer 149
              diffuse gastric cancer 4
                hereditary diffuse gastric cancer 4
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      gastrointestinal system disease 6061
        Gastrointestinal Diseases 4144
          Gastrointestinal Neoplasms 3307
            gastrointestinal system cancer 2527
              stomach cancer 149
                diffuse gastric cancer 4
                  hereditary diffuse gastric cancer 4
paths to the root