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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:Abdominal Neoplasms
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Accession:DOID:9003078 term browser browse the term
Definition:New abnormal growth of tissue in the ABDOMEN.
Synonyms:exact_synonym: Abdominal Neoplasm
 primary_id: MESH:D000008;   RDO:0001323

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hereditary desmoid disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative OMIM
ClinVar		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 More... NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
peritoneal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Primary peritoneal carcinoma ClinVar PMID:25741868 NCBI chrNW_004936473:26,556,636...26,600,830
Ensembl chrNW_004936473:26,556,611...26,603,736 		JBrowse link
peritoneal mesothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chrNW_004936489:2,607,114...2,649,879
Ensembl chrNW_004936489:2,605,195...2,649,879 		JBrowse link
G Lats2 large tumor suppressor kinase 2 ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chrNW_004936720:735,326...795,596
Ensembl chrNW_004936720:735,524...793,696 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chrNW_004936593:2,742,236...3,282,596
Ensembl chrNW_004936593:3,106,202...3,282,596 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:30171198 RGD:151356964 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
Peritoneal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calb2 calbindin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004936475:22,344,416...22,372,015
Ensembl chrNW_004936475:22,341,822...22,372,609 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23621518 NCBI chrNW_004936478:456,369...595,705
Ensembl chrNW_004936478:458,871...595,742 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 PMID:23621518 NCBI chrNW_004936542:4,235,914...4,244,981
Ensembl chrNW_004936542:4,237,010...4,244,462 		JBrowse link
G Mlana melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004936539:504,445...518,702
Ensembl chrNW_004936539:504,388...522,096 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Pdpn podoplanin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004936474:1,751,159...1,779,011
Ensembl chrNW_004936474:1,750,944...1,781,156 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004936474:24,205,878...24,236,611
Ensembl chrNW_004936474:24,206,644...24,236,713 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004936533:5,411,949...5,459,693
Ensembl chrNW_004936533:5,411,848...5,459,693 		JBrowse link
peritoneum cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Peritoneum cancer ClinVar PMID:20104584 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29446198 More... NCBI chrNW_004936490:17,735,444...17,801,456 JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha sexual_dimorphism ISO associated with stomach cancer;protein:altered expression:peritoneum (human) RGD PMID:32724431 RGD:42722625 NCBI chrNW_004936677:2,774,076...2,779,660 JBrowse link
G Prg2 proteoglycan 2, pro eosinophil major basic protein severity ISO associated with colorectal cancer;protein:decreased expression:colorectum, eosinophil (human) RGD PMID:28439450 RGD:40902993 NCBI chrNW_004936581:5,101,041...5,103,175
Ensembl chrNW_004936581:5,100,623...5,102,857 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    disease of cellular proliferation 7022
      Neoplasms by Site 6505
        Abdominal Neoplasms 19
          Peritoneal Neoplasms + 18
          Retroperitoneal Neoplasms + 0
          Sister Mary Joseph's Nodule 0
          hereditary desmoid disease 2
paths to the root