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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100528HP:0100528Pleuropulmonary blastoma0DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100528HP:0100528Pleuropulmonary blastoma0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent


Genes (2) :DICER1 KEAP1

Diseases (3) :ORPHA:276399 OMIM:601200 OMIM:180295
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.