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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_004936733:1,813,569...1,849,805
Ensembl chrNW_004936733:1,813,548...1,849,806 		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_004936733:1,157,143...1,217,111
Ensembl chrNW_004936733:1,153,955...1,266,934 		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_004936733:1,913,439...1,932,027
Ensembl chrNW_004936733:1,913,437...1,932,869 		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_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689 		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_004936733:1,808,204...1,810,451
Ensembl chrNW_004936733:1,808,476...1,810,141 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO MouseDO NCBI chrNW_004936720:282,291...316,629
Ensembl chrNW_004936720:279,521...316,674 		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_004936846:286,429...288,405
Ensembl chrNW_004936846:286,420...288,405 		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 chrNW_004936733:1,964,545...1,966,157
Ensembl chrNW_004936733:1,961,616...1,966,265 		JBrowse link
G LOC101958459 plasma serine protease inhibitor ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004936846:141,334...150,381
Ensembl chrNW_004936846:146,116...150,438 		JBrowse link
G LOC101973017 corticosteroid-binding globulin ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chrNW_004936733:2,141,484...2,148,129
Ensembl chrNW_004936733:2,141,392...2,148,151 		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_004936733:1,891,198...1,913,389
Ensembl chrNW_004936733:1,891,132...1,909,392 		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_004936733:2,007,843...2,119,766
Ensembl chrNW_004936733:2,007,839...2,119,503 		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_004936733:1,667,191...1,713,517
Ensembl chrNW_004936733:1,670,004...1,712,558 		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_004936733:2,121,875...2,129,988 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 chrNW_004936846:51,074...57,452
Ensembl chrNW_004936846:51,188...58,246 		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_004936846:83,727...92,392
Ensembl chrNW_004936846:83,727...92,398 		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_004936846:174,411...182,053
Ensembl chrNW_004936846:174,233...182,203 		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_004936733:1,127,150...1,147,192
Ensembl chrNW_004936733:1,127,145...1,147,210 		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_004936733:1,387,951...1,657,176
Ensembl chrNW_004936733:1,388,163...1,656,184 		JBrowse link
G Yy1 YY1 transcription factor ISO OMIM:601200 MouseDO NCBI chrNW_004936604:3,911,407...3,945,405 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14569
    disease of cellular proliferation 6930
      Neoplasms by Histologic Type 4873
        Complex and Mixed Neoplasms 334
          pulmonary blastoma 20
            pleuropulmonary blastoma 20
Path 2
Term Annotations click to browse term
  disease 14569
    disease of anatomical entity 14271
      respiratory system disease 3227
        thoracic disease 1743
          Thoracic Neoplasms 1348
            Respiratory Tract Neoplasms 915
              respiratory system cancer 731
                lung cancer 705
                  pulmonary blastoma 20
                    pleuropulmonary blastoma 20
paths to the root