Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system morphology (HP:0012252)help
Parent Node:
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Abnormal lung morphology (HP:0002088)help
..Starting node
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Abnormal pleura morphology (HP:0002103)help
Term ID: 2103
Name: Abnormal pleura morphology
Synonym: Abnormality of the pleura
Definition: An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.
Comments:
Reference: HP:0002103
Genes and Diseases:
 
       Child Nodes:
........expandPleuritis (HP:0002102) help
........expandPleural effusion (HP:0002202) help
................... HP:0010310 Chylothorax
................... HP:0011919 Pleural empyema
................... HP:0011920 Transudative pleural effusion
................... HP:0011921 Exudative pleural effusion
........expandPleural lymphangiectasia (HP:0006531) help
........expandHemothorax (HP:0012151) help
........expandPleural cyst (HP:0025422) help
........expandNeoplasia of the pleura (HP:0100527) help
................... HP:0100002 Pleural mesothelioma
................... HP:0100528 Pleuropulmonary blastoma

 Sister Nodes: 
..expandAbnormal lung lobation (HP:0002101) help
..expandAbnormal pulmonary interstitial morphology (HP:0006530) help
..expandAbnormal pulmonary lymphatics (HP:0006529) help
..expandAbnormal subpleural morphology (HP:0031630) help
..expandAbnormality of the pulmonary vasculature (HP:0004930) help
..expandAplasia/Hypoplasia of the lungs (HP:0006703) help
..expandAtelectasis (HP:0100750) help
..expandBronchogenic cyst (HP:0100730) help
..expandBronchopulmonary sequestration (HP:0010960) help
..expandChronic lung disease (HP:0006528) help
..expandEmphysema (HP:0002097) help
..expandHemoptysis (HP:0002105) help
..expandHypersensitivity pneumonitis (HP:0006516) help
..expandIntraalveolar nodular calcifications (HP:0006514) help
..expandIntraalveolar phospholipid accumulation (HP:0006517) help
..expandLung abscess (HP:0025044) help
..expandMultiple pulmonary cysts (HP:0005948) help
..expandNeoplasm of the lung (HP:0100526) help
..expandPneumothorax (HP:0002107) help
..expandPulmonary edema (HP:0100598) help
..expandPulmonary fibrosis (HP:0002206) help
..expandPulmonary granulomatosis (HP:0030250) help
..expandPulmonary hemorrhage (HP:0040223) help
..expandPulmonary infiltrates (HP:0002113) help
..expandPulmonary opacity (HP:0031457) help
..expandPulmonary pneumatocele (HP:0025419) help
..expandRespiratory tract infection (HP:0011947) help
..expandUnilateral primary pulmonary dysgenesis (HP:0006549) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002103HP:0002103Abnormal pleura morphology0FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0002103Abnormal pleura morphology0FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0002103Abnormal pleura morphology0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0002103Abnormal pleura morphology0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0006531Pleural lymphangiectasia1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0025422Pleural cyst1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0031944Pleural thickening1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0002107Pneumothorax1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0012151Hemothorax1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0033398Pleural plaque1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0002102Pleuritis1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0002202Pleural effusion1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0100527Neoplasia of the pleura1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0033398Pleural plaque1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0002102Pleuritis1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0002202Pleural effusion1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0100527Neoplasia of the pleura1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0006531Pleural lymphangiectasia1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0025422Pleural cyst1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0031944Pleural thickening1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0002107Pneumothorax1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0012151Hemothorax1FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0033398Pleural plaque1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0002102Pleuritis1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0002202Pleural effusion1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0100527Neoplasia of the pleura1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0006531Pleural lymphangiectasia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0025422Pleural cyst1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0031944Pleural thickening1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0002107Pneumothorax1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0012151Hemothorax1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0006531Pleural lymphangiectasia1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0025422Pleural cyst1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0031944Pleural thickening1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0002107Pneumothorax1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0012151Hemothorax1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0033398Pleural plaque1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0002102Pleuritis1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0002202Pleural effusion1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0100527Neoplasia of the pleura1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0010310Chylothorax2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0006522Repeated pneumothoraces2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0011919Pleural empyema2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0100002Pleural mesothelioma2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0002108Spontaneous pneumothorax2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0011920Transudative pleural effusion2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0100528Pleuropulmonary blastoma2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0032993Abnormal pulmonary fissure count2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0005939Multiple bilateral pneumothoraces2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0011921Exudative pleural effusion2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0011920Transudative pleural effusion2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0100528Pleuropulmonary blastoma2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0032993Abnormal pulmonary fissure count2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0005939Multiple bilateral pneumothoraces2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0011921Exudative pleural effusion2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0002108Spontaneous pneumothorax2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0100002Pleural mesothelioma2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0010310Chylothorax2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0006522Repeated pneumothoraces2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0011919Pleural empyema2FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0100528Pleuropulmonary blastoma2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0032993Abnormal pulmonary fissure count2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0005939Multiple bilateral pneumothoraces2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0011921Exudative pleural effusion2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0002108Spontaneous pneumothorax2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0011920Transudative pleural effusion2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0010310Chylothorax2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0006522Repeated pneumothoraces2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0011919Pleural empyema2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0100002Pleural mesothelioma2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0010310Chylothorax2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0006522Repeated pneumothoraces2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0011919Pleural empyema2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0100002Pleural mesothelioma2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0011920Transudative pleural effusion2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0100528Pleuropulmonary blastoma2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0032993Abnormal pulmonary fissure count2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0005939Multiple bilateral pneumothoraces2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0011921Exudative pleural effusion2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0002108Spontaneous pneumothorax2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0032995Decreased pulmonary fissure count3FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0032994Supernumerary pulmonary fissure3FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0032994Supernumerary pulmonary fissure3FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1127427310607273
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0032995Decreased pulmonary fissure count3FLCN CL E G H2011632903Hypokalemic alkalosis with hypercalcinuriaORPHA1143927310607273
HP:0002103HP:0032994Supernumerary pulmonary fissure3GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0032995Decreased pulmonary fissure count3GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0002103HP:0032995Decreased pulmonary fissure count3GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0002103HP:0032994Supernumerary pulmonary fissure3GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002103HP:0002103Abnormal pleura morphology0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0002103Abnormal pleura morphology0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0002103Abnormal pleura morphology0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0002103Abnormal pleura morphology0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0002103Abnormal pleura morphology0ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0002103Abnormal pleura morphology0ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0002103Abnormal pleura morphology0GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0002103Abnormal pleura morphology0GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0002103Abnormal pleura morphology0HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0002103Abnormal pleura morphology0IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0002103Abnormal pleura morphology0IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0002103Abnormal pleura morphology0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0002103Abnormal pleura morphology0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0002103Abnormal pleura morphology0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0002102Pleuritis1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0002202Pleural effusion1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0100527Neoplasia of the pleura1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0033398Pleural plaque1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0031944Pleural thickening1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0002107Pneumothorax1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0012151Hemothorax1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0006531Pleural lymphangiectasia1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0025422Pleural cyst1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0031944Pleural thickening1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0002107Pneumothorax1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0012151Hemothorax1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0006531Pleural lymphangiectasia1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0025422Pleural cyst1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0033398Pleural plaque1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0002102Pleuritis1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0002202Pleural effusion1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0100527Neoplasia of the pleura1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0012151Hemothorax1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0006531Pleural lymphangiectasia1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0025422Pleural cyst1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0031944Pleural thickening1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0002107Pneumothorax1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0002202Pleural effusion1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0100527Neoplasia of the pleura1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0033398Pleural plaque1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0002102Pleuritis1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0100527Neoplasia of the pleura1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0033398Pleural plaque1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0002102Pleuritis1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0002202Pleural effusion1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0002107Pneumothorax1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0012151Hemothorax1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0006531Pleural lymphangiectasia1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0025422Pleural cyst1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0031944Pleural thickening1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0031944Pleural thickening1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0002107Pneumothorax1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0012151Hemothorax1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0006531Pleural lymphangiectasia1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0025422Pleural cyst1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0002102Pleuritis1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0002202Pleural effusion1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0100527Neoplasia of the pleura1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0033398Pleural plaque1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0002102Pleuritis1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0002202Pleural effusion1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0100527Neoplasia of the pleura1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0033398Pleural plaque1ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0031944Pleural thickening1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0002107Pneumothorax1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0012151Hemothorax1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0006531Pleural lymphangiectasia1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0025422Pleural cyst1ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0100527Neoplasia of the pleura1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0033398Pleural plaque1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0002102Pleuritis1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0002202Pleural effusion1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0012151Hemothorax1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0006531Pleural lymphangiectasia1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0025422Pleural cyst1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0031944Pleural thickening1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0002107Pneumothorax1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0012151Hemothorax1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0006531Pleural lymphangiectasia1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0025422Pleural cyst1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0031944Pleural thickening1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0002107Pneumothorax1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0100527Neoplasia of the pleura1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0033398Pleural plaque1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0002102Pleuritis1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0002202Pleural effusion1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0002102Pleuritis1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0031944Pleural thickening1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0006531Pleural lymphangiectasia1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0033398Pleural plaque1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0002202Pleural effusion1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0100527Neoplasia of the pleura1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0025422Pleural cyst1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0002107Pneumothorax1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0012151Hemothorax1HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0100527Neoplasia of the pleura1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0033398Pleural plaque1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0002102Pleuritis1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0002202Pleural effusion1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0033398Pleural plaque1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0002102Pleuritis1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0002202Pleural effusion1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0100527Neoplasia of the pleura1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0006531Pleural lymphangiectasia1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0025422Pleural cyst1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0031944Pleural thickening1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0002107Pneumothorax1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0012151Hemothorax1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0006531Pleural lymphangiectasia1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0025422Pleural cyst1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0031944Pleural thickening1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0002107Pneumothorax1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0012151Hemothorax1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0031944Pleural thickening1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0006531Pleural lymphangiectasia1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0033398Pleural plaque1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0002202Pleural effusion1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0100527Neoplasia of the pleura1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0002107Pneumothorax1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0012151Hemothorax1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0025422Pleural cyst1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0002102Pleuritis1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0033398Pleural plaque1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0002102Pleuritis1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0002202Pleural effusion1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0100527Neoplasia of the pleura1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0006531Pleural lymphangiectasia1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0025422Pleural cyst1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0031944Pleural thickening1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0002107Pneumothorax1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0012151Hemothorax1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0006531Pleural lymphangiectasia1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0025422Pleural cyst1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0031944Pleural thickening1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0002107Pneumothorax1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0012151Hemothorax1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0032991Abnormal pulmonary fissure morphology1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0033398Pleural plaque1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0002102Pleuritis1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0002202Pleural effusion1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0100527Neoplasia of the pleura1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0032993Abnormal pulmonary fissure count2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0005939Multiple bilateral pneumothoraces2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0011921Exudative pleural effusion2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0002108Spontaneous pneumothorax2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0011920Transudative pleural effusion2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0100528Pleuropulmonary blastoma2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0010310Chylothorax2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0006522Repeated pneumothoraces2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0011919Pleural empyema2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0100002Pleural mesothelioma2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0010310Chylothorax2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0006522Repeated pneumothoraces2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0011919Pleural empyema2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0100002Pleural mesothelioma2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0032993Abnormal pulmonary fissure count2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0005939Multiple bilateral pneumothoraces2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0011921Exudative pleural effusion2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0002108Spontaneous pneumothorax2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0011920Transudative pleural effusion2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0100528Pleuropulmonary blastoma2CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0010310Chylothorax2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0006522Repeated pneumothoraces2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0011919Pleural empyema2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0100002Pleural mesothelioma2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0005939Multiple bilateral pneumothoraces2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0011921Exudative pleural effusion2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0002108Spontaneous pneumothorax2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0011920Transudative pleural effusion2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0100528Pleuropulmonary blastoma2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0032993Abnormal pulmonary fissure count2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0005939Multiple bilateral pneumothoraces2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0011921Exudative pleural effusion2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0002108Spontaneous pneumothorax2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0011920Transudative pleural effusion2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0100528Pleuropulmonary blastoma2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0032993Abnormal pulmonary fissure count2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0010310Chylothorax2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0006522Repeated pneumothoraces2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0011919Pleural empyema2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0100002Pleural mesothelioma2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0010310Chylothorax2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0006522Repeated pneumothoraces2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0011919Pleural empyema2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0100002Pleural mesothelioma2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0032993Abnormal pulmonary fissure count2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0005939Multiple bilateral pneumothoraces2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0011921Exudative pleural effusion2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0002108Spontaneous pneumothorax2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0011920Transudative pleural effusion2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0100528Pleuropulmonary blastoma2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0032993Abnormal pulmonary fissure count2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0005939Multiple bilateral pneumothoraces2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0011921Exudative pleural effusion2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0002108Spontaneous pneumothorax2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0011920Transudative pleural effusion2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0100528Pleuropulmonary blastoma2ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0010310Chylothorax2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0006522Repeated pneumothoraces2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0011919Pleural empyema2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0100002Pleural mesothelioma2ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0005939Multiple bilateral pneumothoraces2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0011921Exudative pleural effusion2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0002108Spontaneous pneumothorax2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0011920Transudative pleural effusion2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0100528Pleuropulmonary blastoma2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0032993Abnormal pulmonary fissure count2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0010310Chylothorax2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0006522Repeated pneumothoraces2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0011919Pleural empyema2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0100002Pleural mesothelioma2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0010310Chylothorax2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0006522Repeated pneumothoraces2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0011919Pleural empyema2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0100002Pleural mesothelioma2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0005939Multiple bilateral pneumothoraces2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0011921Exudative pleural effusion2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0002108Spontaneous pneumothorax2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0011920Transudative pleural effusion2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0100528Pleuropulmonary blastoma2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0032993Abnormal pulmonary fissure count2GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0100528Pleuropulmonary blastoma2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0011921Exudative pleural effusion2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0002108Spontaneous pneumothorax2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0100002Pleural mesothelioma2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0010310Chylothorax2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0006522Repeated pneumothoraces2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0005939Multiple bilateral pneumothoraces2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0011920Transudative pleural effusion2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0032993Abnormal pulmonary fissure count2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0011919Pleural empyema2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0002108Spontaneous pneumothorax2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0011920Transudative pleural effusion2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0100528Pleuropulmonary blastoma2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0032993Abnormal pulmonary fissure count2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0005939Multiple bilateral pneumothoraces2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0011921Exudative pleural effusion2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0002108Spontaneous pneumothorax2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0011920Transudative pleural effusion2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0100528Pleuropulmonary blastoma2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0032993Abnormal pulmonary fissure count2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0005939Multiple bilateral pneumothoraces2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0011921Exudative pleural effusion2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0011919Pleural empyema2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0100002Pleural mesothelioma2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0010310Chylothorax2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0006522Repeated pneumothoraces2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0100002Pleural mesothelioma2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0010310Chylothorax2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0006522Repeated pneumothoraces2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0011919Pleural empyema2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0010310Chylothorax2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0006522Repeated pneumothoraces2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0100002Pleural mesothelioma2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0005939Multiple bilateral pneumothoraces2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0011920Transudative pleural effusion2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0032993Abnormal pulmonary fissure count2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0011919Pleural empyema2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0011921Exudative pleural effusion2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0002108Spontaneous pneumothorax2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0100528Pleuropulmonary blastoma2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0002108Spontaneous pneumothorax2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0011920Transudative pleural effusion2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0100528Pleuropulmonary blastoma2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0032993Abnormal pulmonary fissure count2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0005939Multiple bilateral pneumothoraces2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0011921Exudative pleural effusion2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0011919Pleural empyema2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0100002Pleural mesothelioma2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0010310Chylothorax2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0006522Repeated pneumothoraces2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0100002Pleural mesothelioma2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0032992Abnormal pulmonary fissure architecture2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0010310Chylothorax2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0006522Repeated pneumothoraces2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0011919Pleural empyema2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0002108Spontaneous pneumothorax2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0011920Transudative pleural effusion2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0100528Pleuropulmonary blastoma2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0032993Abnormal pulmonary fissure count2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0005939Multiple bilateral pneumothoraces2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0011921Exudative pleural effusion2TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0032994Supernumerary pulmonary fissure3CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0032995Decreased pulmonary fissure count3CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0032995Decreased pulmonary fissure count3CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0281653186760
HP:0002103HP:0032994Supernumerary pulmonary fissure3CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA0301653186760
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0032995Decreased pulmonary fissure count3CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0032994Supernumerary pulmonary fissure3CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0032994Supernumerary pulmonary fissure3CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01462505123890
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0032995Decreased pulmonary fissure count3CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA01722505123890
HP:0002103HP:0032995Decreased pulmonary fissure count3ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0032994Supernumerary pulmonary fissure3ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0032994Supernumerary pulmonary fissure3ELP1 CL E G H85181764ORPHA010545959603722
HP:0002103HP:0032995Decreased pulmonary fissure count3ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3ELP1 CL E G H85181764ORPHA011815959603722
HP:0002103HP:0032994Supernumerary pulmonary fissure3GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0032995Decreased pulmonary fissure count3GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0032995Decreased pulmonary fissure count3GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA016730677301003
HP:0002103HP:0032994Supernumerary pulmonary fissure3GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA017030677301003
HP:0002103HP:0032994Supernumerary pulmonary fissure3HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0032995Decreased pulmonary fissure count3HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3HLA-B CL E G H310636426ORPHA0184932142830
HP:0002103HP:0032994Supernumerary pulmonary fissure3IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0032994Supernumerary pulmonary fissure3IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0032995Decreased pulmonary fissure count3IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0032995Decreased pulmonary fissure count3IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0002103HP:0032995Decreased pulmonary fissure count3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0032994Supernumerary pulmonary fissure3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0002103HP:0032994Supernumerary pulmonary fissure3TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0032995Decreased pulmonary fissure count3TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191
HP:0002103HP:0004876Spontaneous neonatal pneumothorax3TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0032995Decreased pulmonary fissure count3TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05211917191191
HP:0002103HP:0032994Supernumerary pulmonary fissure3TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA05611917191191


Genes (84) :ACTA2 ADAMTS2 ADAMTS3 BCL2 BCL6 BTNL2 C4A CBL CCBE1 CCND1 CCR1 CD28 CHST14 COL1A1 COL3A1 COL5A1 COL5A2 CTLA4 DICER1 DNASE1L3 ELN ELP1 ERAP1 FAS FAT4 FBN1 FLCN FOXE3 FSHR GPKOW GPR35 GUSB HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HRAS IGH IKZF1 IL10 IL12A IL12A-AS1 IL23R IL6 INHBA KEAP1 KIF11 KLRC4 LACC1 LBR LOX MAT2A MEFV MFAP5 MIF MST1 MYD88 MYH11 MYLK PIEZO1 PRKG1 PRSS1 PRTN3 PTPN22 RIT1 SERPINF2 SLC25A24 SMAD3 SOX18 SPINK1 STAT4 TAPT1 TCF4 TGFB2 TGFB3 TGFBR1 TGFBR2 TLR4 TNFRSF1A TNFRSF1B TSC1 TSC2 UBAC2

Diseases (55) :3162 1764 2903 2570 584 36426 397 91387 545 797 117 235510 29073 601776 287 286 900 36412 154700 122 64739 171 235200 85414 218040 213504 215140 342 249100 134610 33226 167800 615355 79 262850 612289 613795 69735 616897 614816 32960 538 805 2136 613563 130050 276399 601200 180295 135150 173600 2526 616843 610168 225410
 

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