Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the respiratory system (HP:0002086)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormal lung morphology (HP:0002088)help
Parent Node:
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Neoplasm of the respiratory system (HP:0100606)help
..Starting node
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Neoplasm of the lung (HP:0100526)help
Term ID: 100526
Name: Neoplasm of the lung
Synonym: Lung cancer; Lung tumor
Definition: Tumor of the lung.
Comments:
Reference: HP:0100526
Genes and Diseases:
 
       Child Nodes:
........expandLung fibroma (HP:0010616) help
........expandPulmonary lymphoma (HP:0011953) help
........expandPulmonary lymphangiomyomatosis (HP:0012798) help
........expandBronchial neoplasm (HP:0030077) help
........expandSmall cell lung carcinoma (HP:0030357) help
........expandNon-small cell lung carcinoma (HP:0030358) help
................... HP:0030078 Lung adenocarcinoma
................... HP:0030359 Squamous cell lung carcinoma
................... HP:0030360 Large cell lung carcinoma
........expandPulmonary chondroma (HP:0031474) help
........expandNeoplasm of the tracheobronchial system (HP:0100552) help
................... HP:0006519 Alveolar cell carcinoma
................... HP:0006524 Tracheobronchial leiomyomatosis
................... HP:0100528 Pleuropulmonary blastoma
................... HP:0100551 Neoplasm of the trachea
........expandPulmonary paraglioma (HP:0100636) help

 Sister Nodes: 
..expandNeoplasia of the nasopharynx (HP:0100630) help
..expandNeoplasia of the pleura (HP:0100527) help
..expandNeoplasm of the larynx (HP:0100605) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100526HP:0100526Neoplasm of the lung0LMNA CL E G H400079474ORPHA15746636150330
HP:0100526HP:0100526Neoplasm of the lung0NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA13797883600276
HP:0100526HP:0100526Neoplasm of the lung0PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA1248804173410
HP:0100526HP:0100526Neoplasm of the lung0RB1 CL E G H5925182280Small cell lung cancer182280C0149925OMIM111139884614041
HP:0100526HP:0100526Neoplasm of the lung1LMNA CL E G H400079474ORPHA15746636150330
HP:0100526HP:0100526Neoplasm of the lung1NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA13797883600276
HP:0100526HP:0100526Neoplasm of the lung1PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA1248804173410
HP:0100526HP:0100526Neoplasm of the lung1RB1 CL E G H5925182280Small cell lung cancer182280C0149925OMIM111139884614041
HP:0100526HP:0100526Neoplasm of the lung2LMNA CL E G H400079474ORPHA15746636150330
HP:0100526HP:0100526Neoplasm of the lung2NOTCH3 CL E G H48542591Hamano Tsukamoto syndromeORPHA13797883600276
HP:0100526HP:0100526Neoplasm of the lung2PDGFRB CL E G H51592591Hamano Tsukamoto syndromeORPHA1248804173410
HP:0100526HP:0100526Neoplasm of the lung2RB1 CL E G H5925182280Small cell lung cancer182280C0149925OMIM111139884614041
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100526HP:0100526Neoplasm of the lung0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012391164730
HP:0100526HP:0100526Neoplasm of the lung0BRCA2 CL E G H675654Ampola syndromeORPHA030251101600185
HP:0100526HP:0100526Neoplasm of the lung0C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100526HP:0100526Neoplasm of the lung0DIS3L2 CL E G H129563654Ampola syndromeORPHA01428648614184
HP:0100526HP:0100526Neoplasm of the lung0EWSR1 CL E G H213083469ORPHA083508133450
HP:0100526HP:0100526Neoplasm of the lung0GPC3 CL E G H2719654Ampola syndromeORPHA0984451300037
HP:0100526HP:0100526Neoplasm of the lung0H19 CL E G H283120654Ampola syndromeORPHA0384713103280
HP:0100526HP:0100526Neoplasm of the lung0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0185154601688
HP:0100526HP:0100526Neoplasm of the lung0MBTPS2 CL E G H51360659AmyoplasiaORPHA02615455300294
HP:0100526HP:0100526Neoplasm of the lung0POU6F2 CL E G H11281654Ampola syndromeORPHA0421694609062
HP:0100526HP:0100526Neoplasm of the lung0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA06589588601728
HP:0100526HP:0100526Neoplasm of the lung0RELA CL E G H5970251636ORPHA039955164014
HP:0100526HP:0100526Neoplasm of the lung0REST CL E G H5978654Ampola syndromeORPHA0179966600571
HP:0100526HP:0100526Neoplasm of the lung0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA07610955601460
HP:0100526HP:0100526Neoplasm of the lung0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA046611389602216
HP:0100526HP:0100526Neoplasm of the lung0TRIM28 CL E G H10155654Ampola syndromeORPHA0316384601742
HP:0100526HP:0100526Neoplasm of the lung0TRIP13 CL E G H9319654Ampola syndromeORPHA0212307604507
HP:0100526HP:0100526Neoplasm of the lung0TRPV3 CL E G H162514659AmyoplasiaORPHA01718084607066
HP:0100526HP:0100526Neoplasm of the lung0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611
HP:0100526HP:0100526Neoplasm of the lung0WT1 CL E G H749083469ORPHA018412796607102
HP:0100526HP:0100526Neoplasm of the lung0WT1 CL E G H7490654Ampola syndromeORPHA018412796607102
HP:0100526HP:0100526Neoplasm of the lung1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012391164730
HP:0100526HP:0100526Neoplasm of the lung1BRCA2 CL E G H675654Ampola syndromeORPHA030251101600185
HP:0100526HP:0100526Neoplasm of the lung1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100526HP:0100526Neoplasm of the lung1DIS3L2 CL E G H129563654Ampola syndromeORPHA01428648614184
HP:0100526HP:0100526Neoplasm of the lung1EWSR1 CL E G H213083469ORPHA083508133450
HP:0100526HP:0100526Neoplasm of the lung1GPC3 CL E G H2719654Ampola syndromeORPHA0984451300037
HP:0100526HP:0100526Neoplasm of the lung1H19 CL E G H283120654Ampola syndromeORPHA0384713103280
HP:0100526HP:0100526Neoplasm of the lung1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0185154601688
HP:0100526HP:0100526Neoplasm of the lung1MBTPS2 CL E G H51360659AmyoplasiaORPHA02615455300294
HP:0100526HP:0100526Neoplasm of the lung1POU6F2 CL E G H11281654Ampola syndromeORPHA0421694609062
HP:0100526HP:0100526Neoplasm of the lung1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA06589588601728
HP:0100526HP:0100526Neoplasm of the lung1RELA CL E G H5970251636ORPHA039955164014
HP:0100526HP:0100526Neoplasm of the lung1REST CL E G H5978654Ampola syndromeORPHA0179966600571
HP:0100526HP:0100526Neoplasm of the lung1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA07610955601460
HP:0100526HP:0100526Neoplasm of the lung1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA046611389602216
HP:0100526HP:0100526Neoplasm of the lung1TRIM28 CL E G H10155654Ampola syndromeORPHA0316384601742
HP:0100526HP:0100526Neoplasm of the lung1TRIP13 CL E G H9319654Ampola syndromeORPHA0212307604507
HP:0100526HP:0100526Neoplasm of the lung1TRPV3 CL E G H162514659AmyoplasiaORPHA01718084607066
HP:0100526HP:0100526Neoplasm of the lung1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611
HP:0100526HP:0100526Neoplasm of the lung1WT1 CL E G H749083469ORPHA018412796607102
HP:0100526HP:0100526Neoplasm of the lung1WT1 CL E G H7490654Ampola syndromeORPHA018412796607102
HP:0100526HP:0100526Neoplasm of the lung2AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012391164730
HP:0100526HP:0100526Neoplasm of the lung2BRCA2 CL E G H675654Ampola syndromeORPHA030251101600185
HP:0100526HP:0100526Neoplasm of the lung2C11orf95 CL E G H65998251636ORPHA028449615699
HP:0100526HP:0100526Neoplasm of the lung2DIS3L2 CL E G H129563654Ampola syndromeORPHA01428648614184
HP:0100526HP:0100526Neoplasm of the lung2EWSR1 CL E G H213083469ORPHA083508133450
HP:0100526HP:0100526Neoplasm of the lung2GPC3 CL E G H2719654Ampola syndromeORPHA0984451300037
HP:0100526HP:0100526Neoplasm of the lung2H19 CL E G H283120654Ampola syndromeORPHA0384713103280
HP:0100526HP:0100526Neoplasm of the lung2HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0185154601688
HP:0100526HP:0100526Neoplasm of the lung2MBTPS2 CL E G H51360659AmyoplasiaORPHA02615455300294
HP:0100526HP:0100526Neoplasm of the lung2POU6F2 CL E G H11281654Ampola syndromeORPHA0421694609062
HP:0100526HP:0100526Neoplasm of the lung2PTEN CL E G H5728744Aortic valves stenosis of the childORPHA06589588601728
HP:0100526HP:0100526Neoplasm of the lung2RELA CL E G H5970251636ORPHA039955164014
HP:0100526HP:0100526Neoplasm of the lung2REST CL E G H5978654Ampola syndromeORPHA0179966600571
HP:0100526HP:0100526Neoplasm of the lung2SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA07610955601460
HP:0100526HP:0100526Neoplasm of the lung2STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA046611389602216
HP:0100526HP:0100526Neoplasm of the lung2TRIM28 CL E G H10155654Ampola syndromeORPHA0316384601742
HP:0100526HP:0100526Neoplasm of the lung2TRIP13 CL E G H9319654Ampola syndromeORPHA0212307604507
HP:0100526HP:0100526Neoplasm of the lung2TRPV3 CL E G H162514659AmyoplasiaORPHA01718084607066
HP:0100526HP:0100526Neoplasm of the lung2WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611
HP:0100526HP:0100526Neoplasm of the lung2WT1 CL E G H749083469ORPHA018412796607102
HP:0100526HP:0100526Neoplasm of the lung2WT1 CL E G H7490654Ampola syndromeORPHA018412796607102


Genes (42) :AKT1 BAP1 BRAF BRCA2 C11ORF95 DICER1 DIS3L2 ERBB2 EWSR1 GPC3 H19 HPGD IRF1 KEAP1 KRAS LMNA MAP3K8 MBTPS2 NOTCH3 PDGFRB PIK3CA POU6F2 PPP2R1B PRKN PTEN RB1 RELA REST SFTPA2 SFTPC SLC22A18 SLCO2A1 STK11 TERT TP53 TRIM28 TRIP13 TRPV3 TSC1 TSC2 WRN WT1

Diseases (22) :744 654 251636 83469 2796 79474 659 2591 182280 2869 902 805 538 606690 614327 211980 276399 601200 180295 178500 1501 151623
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.