Human Phenotype Ontology 
Grandparent Node:
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Abnormal lung morphology (HP:0002088)help
Grandparent Node:
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Neoplasm of the respiratory system (HP:0100606)help
Parent Node:
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Abnormal tracheobronchial morphology (HP:0005607)help
Parent Node:
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Neoplasm of the lung (HP:0100526)help
..Starting node
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Neoplasm of the tracheobronchial system (HP:0100552)help
Term ID: 100552
Name: Neoplasm of the tracheobronchial system
Synonym:
Definition:
Comments:
Reference: HP:0100552
Genes and Diseases:
 
       Child Nodes:
........expandAlveolar cell carcinoma (HP:0006519) help
........expandTracheobronchial leiomyomatosis (HP:0006524) help
........expandPleuropulmonary blastoma (HP:0100528) help
........expandNeoplasm of the trachea (HP:0100551) help

 Sister Nodes: 
..expandBronchial neoplasm (HP:0030077) help
..expandLung fibroma (HP:0010616) help
..expandNon-small cell lung carcinoma (HP:0030358) help
..expandPulmonary chondroma (HP:0031474) help
..expandPulmonary lymphangiomyomatosis (HP:0012798) help
..expandPulmonary lymphoma (HP:0011953) help
..expandPulmonary paraglioma (HP:0100636) help
..expandSmall cell lung carcinoma (HP:0030357) 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:0100552HP:0100552Neoplasm of the tracheobronchial system0BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to276
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to37
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to6
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiter670
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to257
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to77
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to199
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to37
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to2
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiter
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to196
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic133
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to162
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to1
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to138
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic10
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic33
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to3
HP:0100552HP:0100552Neoplasm of the tracheobronchial system0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic238
HP:0100552HP:0100551Neoplasm of the trachea1 CL E G H
HP:0100552HP:0030077Bronchial neoplasm1 CL E G H
HP:0100552HP:0006519Alveolar cell carcinoma1BRAF CL E G H6731097OMIM:211980Lung cancer, susceptibility to.276
HP:0100552HP:0006519Alveolar cell carcinoma1CASP8 CL E G H8411509OMIM:211980Lung cancer, susceptibility to.37
HP:0100552HP:0006524Tracheobronchial leiomyomatosis1COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0100552HP:0006524Tracheobronchial leiomyomatosis1COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0100552HP:0006519Alveolar cell carcinoma1CYP2A6 CL E G H15482610OMIM:211980Lung cancer, susceptibility to.6
HP:0100552HP:0100528Pleuropulmonary blastoma1DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent670
HP:0100552HP:0100528Pleuropulmonary blastoma1DICER1 CL E G H2340517098OMIM:601200PLEUROPULMONARY BLASTOMA; PPB670
HP:0100552HP:0100528Pleuropulmonary blastoma1DICER1 CL E G H2340517098OMIM:180295RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2670
HP:0100552HP:0006519Alveolar cell carcinoma1EGFR CL E G H19563236OMIM:211980Lung cancer, susceptibility to.257
HP:0100552HP:0006519Alveolar cell carcinoma1ERBB2 CL E G H20643430OMIM:211980Lung cancer, susceptibility to.77
HP:0100552HP:0006519Alveolar cell carcinoma1ERCC6 CL E G H20743438OMIM:211980Lung cancer, susceptibility to.199
HP:0100552HP:0006519Alveolar cell carcinoma1FASLG CL E G H35611936OMIM:211980Lung cancer, susceptibility to.37
HP:0100552HP:0006519Alveolar cell carcinoma1IRF1 CL E G H36596116OMIM:211980Lung cancer, susceptibility to.2
HP:0100552HP:0100528Pleuropulmonary blastoma1KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040282 - Frequent
HP:0100552HP:0006519Alveolar cell carcinoma1KRAS CL E G H38456407OMIM:211980Lung cancer, susceptibility to.196
HP:0100552HP:0006519Alveolar cell carcinoma1MAP3K8 CL E G H13266860OMIM:211980Lung cancer, susceptibility to.
HP:0100552HP:0006519Alveolar cell carcinoma1MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic.133
HP:0100552HP:0006519Alveolar cell carcinoma1PIK3CA CL E G H52908975OMIM:211980Lung cancer, susceptibility to.162
HP:0100552HP:0006519Alveolar cell carcinoma1PPP2R1B CL E G H55199303OMIM:211980Lung cancer, susceptibility to.1
HP:0100552HP:0006519Alveolar cell carcinoma1PRKN CL E G H50718607OMIM:211980Lung cancer, susceptibility to.138
HP:0100552HP:0006519Alveolar cell carcinoma1SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic.10
HP:0100552HP:0006519Alveolar cell carcinoma1SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic.33
HP:0100552HP:0006519Alveolar cell carcinoma1SLC22A18 CL E G H500210964OMIM:211980Lung cancer, susceptibility to.3
HP:0100552HP:0006519Alveolar cell carcinoma1TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic.238
HP:0100552HP:0033003Tracheal papilloma2 CL E G H
HP:0100552HP:0033002Bronchial papilloma2 CL E G H


Genes (22) :BRAF CASP8 COL4A5 COL4A6 CYP2A6 DICER1 EGFR ERBB2 ERCC6 FASLG IRF1 KEAP1 KRAS MAP3K8 MUC5B PIK3CA PPP2R1B PRKN SFTPA2 SFTPC SLC22A18 TERT

Diseases (6) :OMIM:211980 ORPHA:1018 ORPHA:276399 OMIM:601200 OMIM:180295 OMIM:178500
 

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