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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:pleuropulmonary blastoma
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Accession:DOID:4769 term browser browse the term
Definition:A pulmonary blastoma that derives_from the lung or pleural cavity. (DO)
Synonyms:exact_synonym: DICER1-RELATED PLEUROPULMONARY BLASTOMA CANCER PREDISPOSITION SYNDROME;   PPB;   PPB familial tumor and dysplasia syndrome;   PPBFTDS
 primary_id: MESH:C537516
 xref: EFO:0009052;   GARD:8757;   ICDO:8973/3;   NCI:C5669;   ORDO:64742
For additional species annotation, visit the Alliance of Genome Resources.

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pleuropulmonary blastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb2 ankyrin repeat and SOCS box containing 2 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:16,005,570...16,041,668
Ensembl chrNW_004955438:16,005,570...16,042,115 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:15,345,678...15,445,705
Ensembl chrNW_004955438:15,351,688...15,445,704 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:16,100,345...16,116,377
Ensembl chrNW_004955438:16,100,594...16,114,657 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma ClinVar PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 More... NCBI chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797 		JBrowse link
G Fam181a family with sequence similarity 181 member A ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:15,992,016...16,001,584
Ensembl chrNW_004955438:15,995,256...16,001,584 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO MouseDO NCBI chrNW_004955497:2,199,424...2,232,088
Ensembl chrNW_004955497:2,199,409...2,235,893 		JBrowse link
G Gsc goosecoid homeobox ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:17,653,149...17,655,091
Ensembl chrNW_004955438:17,653,271...17,656,878 		JBrowse link
G LOC102005637 cytochrome c oxidase subunit 8C, mitochondrial ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:15,480,509...15,481,812 JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:16,079,859...16,096,686
Ensembl chrNW_004955438:16,079,860...16,096,686 		JBrowse link
G Ppp4r4 protein phosphatase 4 regulatory subunit 4 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:16,237,472...16,332,542
Ensembl chrNW_004955438:16,237,472...16,332,542 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:15,835,641...15,903,484 JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:16,335,201...16,345,093
Ensembl chrNW_004955438:16,335,544...16,345,094 		JBrowse link
G Serpina12 serpin family A member 12 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:17,826,596...17,849,341
Ensembl chrNW_004955438:17,833,919...17,849,393 		JBrowse link
G Serpina3 serpin family A member 3 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:17,758,763...17,766,113
Ensembl chrNW_004955438:17,758,718...17,766,180 		JBrowse link
G Serpina5 serpin family A member 5 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:17,787,398...17,796,013
Ensembl chrNW_004955438:17,787,399...17,796,414 		JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:16,356,600...16,380,861
Ensembl chrNW_004955438:16,356,540...16,380,872 		JBrowse link
G Serpina9 serpin family A member 9 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:17,862,064...17,875,490
Ensembl chrNW_004955438:17,866,796...17,875,104 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:15,321,605...15,341,902
Ensembl chrNW_004955438:15,321,719...15,342,116 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004955438:15,575,438...15,825,575
Ensembl chrNW_004955438:15,577,140...15,825,136 		JBrowse link
G Yy1 YY1 transcription factor ISO OMIM:601200 MouseDO NCBI chrNW_004955438:21,341,374...21,377,674 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14274
    disease of cellular proliferation 6807
      Neoplasms by Histologic Type 4786
        Complex and Mixed Neoplasms 330
          pulmonary blastoma 21
            pleuropulmonary blastoma 21
Path 2
Term Annotations click to browse term
  disease 14274
    disease of anatomical entity 13978
      respiratory system disease 4531
        thoracic disease 3496
          Thoracic Neoplasms 915
            Respiratory Tract Neoplasms 913
              respiratory system cancer 731
                lung cancer 706
                  pulmonary blastoma 21
                    pleuropulmonary blastoma 21
paths to the root