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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_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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_004955421:3,890,291...3,936,892
Ensembl chrNW_004955421:3,890,306...3,936,526
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_004955439:11,559,655...11,611,287
Ensembl chrNW_004955439:11,559,657...11,611,660
JBrowse link
G Lats2 large tumor suppressor kinase 2 ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chrNW_004955497:1,711,882...1,768,177
Ensembl chrNW_004955497:1,711,205...1,761,584
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chrNW_004955448:18,259,847...18,542,085
Ensembl chrNW_004955448:18,259,083...18,439,646
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:30171198 RGD:151356964 NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
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_004955484:4,075,103...4,103,509
Ensembl chrNW_004955484:4,075,067...4,103,559
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23621518 NCBI chrNW_004955410:25,605,323...25,734,845
Ensembl chrNW_004955410:25,605,323...25,731,169
JBrowse link
G Mcam melanoma cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 PMID:23621518 NCBI chrNW_004955412:20,396,056...20,404,777
Ensembl chrNW_004955412:20,397,051...20,404,780
JBrowse link
G Mlana melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004955434:9,877,301...9,893,079
Ensembl chrNW_004955434:9,877,102...9,894,004
JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004955545:1,657,728...1,662,112 JBrowse link
G Pdpn podoplanin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004955527:4,183,639...4,215,200 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473
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_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Cebpb CCAAT enhancer binding protein beta severity ISO associated with stomach cancer RGD PMID:26514342 RGD:11556383 NCBI chrNW_004955445:8,060,432...8,061,289 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_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of cellular proliferation 6891
      Neoplasms by Site 6386
        Abdominal Neoplasms 19
          Peritoneal Neoplasms + 18
          Retroperitoneal Neoplasms + 0
          Sister Mary Joseph's Nodule 0
          hereditary desmoid disease 2
paths to the root