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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


show annotations for term's descendants           Sort by:
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 chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		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 chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		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 chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609 		JBrowse link
G LATS2 large tumor suppressor kinase 2 ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chr25:17,110,620...17,169,826
Ensembl chr25:17,110,637...17,169,291 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:30171198 RGD:151356964 NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167 		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 chr 5:77,178,158...77,205,663
Ensembl chr 5:77,177,951...77,205,671 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23621518 NCBI chr14:36,969,128...37,120,609
Ensembl chr14:36,971,420...37,120,193 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 PMID:23621518 NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149 		JBrowse link
G MLANA melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr11:26,838,766...26,913,337
Ensembl chr11:26,900,767...26,913,334 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690 		JBrowse link
G PDPN podoplanin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G VIM vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta severity ISO associated with stomach cancer RGD PMID:26514342 RGD:11556383 NCBI chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656 		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 chr 5:31,681,605...31,683,261 JBrowse link
G LOC102156778 bone marrow proteoglycan-like severity ISO associated with colorectal cancer;protein:decreased expression:colorectum, eosinophil (human) RGD PMID:28439450 RGD:40902993 NCBI chr18:38,753,269...38,760,730 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15754
    disease of cellular proliferation 7484
      Neoplasms by Site 6938
        Abdominal Neoplasms 20
          Peritoneal Neoplasms + 19
          Retroperitoneal Neoplasms + 0
          Sister Mary Joseph's Nodule 0
          hereditary desmoid disease 2
paths to the root