Human Phenotype Ontology 
Grandparent Node:
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Abnormal tracheobronchial morphology (HP:0005607)help
Grandparent Node:
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Neoplasm of the lung (HP:0100526)help
Parent Node:
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Neoplasia of the pleura (HP:0100527)help
Parent Node:
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Neoplasm of the tracheobronchial system (HP:0100552)help
..Starting node
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Pleuropulmonary blastoma (HP:0100528)help
Term ID: 100528
Name: Pleuropulmonary blastoma
Synonym:
Definition: A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.
Comments:
Reference: HP:0100528
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAlveolar cell carcinoma (HP:0006519) help
..expandNeoplasm of the trachea (HP:0100551) help
..expandTracheobronchial leiomyomatosis (HP:0006524) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H23405276399ORPHA1388817098606241
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H23405276399ORPHA1344017098606241
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H23405180295Rhabdomyosarcoma, embryonal, 2180295C1867234OMIM1388817098606241
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H23405180295Rhabdomyosarcoma, embryonal, 2180295C1867234OMIM1344017098606241
HP:0100528HP:0100528Pleuropulmonary blastoma0KEAP1 CL E G H9817276399ORPHA12923177606016
HP:0100528HP:0100528Pleuropulmonary blastoma0KEAP1 CL E G H9817276399ORPHA12823177606016
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM0388817098606241
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H23405601200DICER1-related pleuropulmonary blastoma cancer predisposition syndrome601200CN072455OMIM0344017098606241


Genes (2) :DICER1 KEAP1

Diseases (3) :276399 601200 180295
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.