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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 chr24:71,687,282...71,730,684
Ensembl chr24:71,687,238...71,730,696
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 chr24:70,979,273...71,084,485
Ensembl chr24:70,979,232...71,041,628
JBrowse link
G COX8C cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr24:71,098,014...71,099,417
Ensembl chr24:71,098,346...71,099,180
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 chr24:71,808,721...71,838,268
Ensembl chr24:71,808,995...71,838,262
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 chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006
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 chr24:71,678,583...71,682,815 JBrowse link
G FGF9 fibroblast growth factor 9 ISO MouseDO NCBI chr 3:1,779,126...1,811,427
Ensembl chr 3:1,779,192...1,812,784
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 chr24:72,581,639...72,585,745
Ensembl chr24:72,581,915...72,583,423
JBrowse link
G IFI27 interferon alpha inducible protein 27 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr24:71,884,130...71,890,813 JBrowse link
G IFI27L2 interferon alpha inducible protein 27 like 2 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr24:71,901,911...71,903,794
Ensembl chr24:71,901,852...71,903,831
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 chr24:71,783,388...71,806,721
Ensembl chr24:71,795,047...71,803,732
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 chr24:71,945,572...72,054,841
Ensembl chr24:71,945,868...72,055,279
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 chr24:71,466,023...71,540,482 JBrowse link
G SERPINA1 serpin family A member 1 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500
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 chr24:72,059,523...72,069,989
Ensembl chr24:72,058,780...72,069,085
JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr24:72,223,849...72,236,880
Ensembl chr24:72,223,638...72,232,543
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 chr24:72,273,041...72,285,367
Ensembl chr24:72,273,186...72,285,157
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 chr24:72,388,948...72,415,746
Ensembl chr24:72,402,560...72,415,507
JBrowse link
G SERPINA4 serpin family A member 4 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr24:72,345,566...72,356,257
Ensembl chr24:72,347,261...72,356,416
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 chr24:72,369,082...72,388,439
Ensembl chr24:72,381,119...72,384,903
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 chr24:72,079,084...72,098,549
Ensembl chr24:72,077,274...72,098,154
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 chr24:72,247,517...72,255,199
Ensembl chr24:72,248,001...72,254,999
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 chr24:70,945,412...70,969,489
Ensembl chr24:70,945,629...70,969,594
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 chr24:71,172,214...71,455,415
Ensembl chr24:71,209,614...71,456,568
JBrowse link
G YY1 YY1 transcription factor ISO OMIM:601200 MouseDO NCBI chr24:78,199,172...78,243,081
Ensembl chr24:78,199,039...78,237,165
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15338
    disease of cellular proliferation 7217
      Neoplasms by Histologic Type 5084
        Complex and Mixed Neoplasms 346
          pulmonary blastoma 25
            pleuropulmonary blastoma 25
Path 2
Term Annotations click to browse term
  disease 15338
    disease of anatomical entity 15021
      respiratory system disease 3335
        thoracic disease 1802
          Thoracic Neoplasms 1391
            Respiratory Tract Neoplasms 941
              respiratory system cancer 744
                lung cancer 718
                  pulmonary blastoma 25
                    pleuropulmonary blastoma 25
paths to the root