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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_004624734:10,317,932...10,352,300
Ensembl chrNW_004624734:10,316,299...10,352,515 		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_004624734:9,659,249...9,768,359
Ensembl chrNW_004624734:9,665,086...9,714,685 		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_004624734:10,405,656...10,422,101 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_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819 		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_004624734:10,304,641...10,314,251
Ensembl chrNW_004624734:10,309,678...10,316,075 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO MouseDO NCBI chrNW_004624776:16,022,118...16,055,413
Ensembl chrNW_004624776:16,019,835...16,055,498 		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_004624734:7,367,030...7,369,081
Ensembl chrNW_004624734:7,367,277...7,368,817 		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_004624734:10,384,877...10,404,333
Ensembl chrNW_004624734:10,384,777...10,404,716 		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_004624734:10,522,300...10,623,887
Ensembl chrNW_004624734:10,522,298...10,620,543 		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_004624734:10,167,407...10,223,052
Ensembl chrNW_004624734:10,167,449...10,222,792 		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_004624734:10,619,044...10,630,963
Ensembl chrNW_004624734:10,620,620...10,631,306 		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_004624734:7,191,049...7,204,386
Ensembl chrNW_004624734:7,191,010...7,206,020 		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_004624734:7,260,666...7,267,831
Ensembl chrNW_004624734:7,259,949...7,267,261 		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_004624734:7,236,833...7,245,579
Ensembl chrNW_004624734:7,236,833...7,244,752 		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_004624734:10,638,031...10,650,297
Ensembl chrNW_004624734:10,637,515...10,651,033 		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_004624734:7,165,467...7,181,908
Ensembl chrNW_004624734:7,162,235...7,173,654 		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_004624734:9,630,810...9,651,395
Ensembl chrNW_004624734:9,630,964...9,652,428 		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_004624734:9,870,391...10,163,977
Ensembl chrNW_004624734:9,870,675...10,156,960 		JBrowse link
G Yy1 YY1 transcription factor ISO OMIM:601200 MouseDO NCBI chrNW_004624734:3,846,753...3,875,294
Ensembl chrNW_004624734:3,846,765...3,875,294 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14166
    disease of cellular proliferation 6760
      Neoplasms by Histologic Type 4756
        Complex and Mixed Neoplasms 324
          pulmonary blastoma 19
            pleuropulmonary blastoma 19
Path 2
Term Annotations click to browse term
  disease 14166
    disease of anatomical entity 13879
      respiratory system disease 4506
        thoracic disease 3473
          Thoracic Neoplasms 902
            Respiratory Tract Neoplasms 900
              respiratory system cancer 719
                lung cancer 695
                  pulmonary blastoma 19
                    pleuropulmonary blastoma 19
paths to the root