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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 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887 		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 chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		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 chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		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 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604 		JBrowse link
G LATS2 large tumor suppressor kinase 2 ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chr11:1,225,523...1,265,970
Ensembl chr11:1,225,527...1,265,946 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Malignant peritoneal mesothelioma ClinVar NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:30171198 RGD:151356964 NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395 		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 6:14,392,220...14,420,663
Ensembl chr 6:14,391,857...14,420,663 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23621518 NCBI chr 9:92,104,786...92,272,264
Ensembl chr 9:92,104,848...92,272,211 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 PMID:23621518 NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083 		JBrowse link
G MLANA melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr 1:216,230,472...216,247,171
Ensembl chr 1:216,232,832...216,245,359 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G PDPN podoplanin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
G VIM vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22784439 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997 		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 chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
G CEBPB CCAAT enhancer binding protein beta severity ISO associated with stomach cancer RGD PMID:26514342 RGD:11556383 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305 		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 chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15426
    disease of cellular proliferation 7370
      Neoplasms by Site 6843
        Abdominal Neoplasms 19
          Peritoneal Neoplasms + 18
          Retroperitoneal Neoplasms + 0
          Sister Mary Joseph's Nodule 0
          hereditary desmoid disease 2
paths to the root