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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: CDH1-RELATED DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME;   DGLBC;   DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME;   GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR;   HDGC;   LBC;   familial diffuse gastric cancer;   hereditary diffuse gastric cancers
 related_synonym: DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE
 primary_id: OMIM:137215
 xref: GARD:10900


show annotations for term's descendants           Sort by:
hereditary diffuse gastric cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 susceptibility ISO ClinVar Annotator: match by term: CDH1-related diffuse gastric and lobular breast cancer syndrome | ClinVar Annotator: match by term: Hereditary diffuse gastric cancer ClinVar
OMIM		 PMID:1722187 PMID:2317870 PMID:2403327 PMID:2449335 PMID:3028782 More... NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: Hereditary diffuse gastric cancer ClinVar PMID:28492532 NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287 		JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Hereditary diffuse gastric cancer ClinVar PMID:25741868 PMID:26182300 PMID:26689913 PMID:28492532 PMID:30515673 More... NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Hereditary diffuse gastric cancer ClinVar PMID:12110640 PMID:14982869 PMID:17056636 PMID:17324647 PMID:18628094 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplasms by Site 6708
        organ system cancer 4999
          gastrointestinal system cancer 2798
            stomach cancer 280
              diffuse gastric cancer 6
                hereditary diffuse gastric cancer 4
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      gastrointestinal system disease 6469
        Digestive System Neoplasms 3683
          Gastrointestinal Neoplasms 3563
            gastrointestinal system cancer 2798
              stomach cancer 280
                diffuse gastric cancer 6
                  hereditary diffuse gastric cancer 4
paths to the root