Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Grandparent Node:
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Abnormal vascular physiology (HP:0030163)help
Parent Node:
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Abnormality of pulmonary circulation (HP:0030875)help
..Starting node
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Pulmonary embolism (HP:0002204)help
Term ID: 2204
Name: Pulmonary embolism
Synonym: Blood clot in artery of lung
Definition: An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Comments:
Reference: HP:0002204
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElevated pulmonary artery pressure (HP:0004890) help
..expandIncreased pulmonary capillary wedge pressure (HP:0030876) help
..expandIncreased pulmonary vascular resistance (HP:0005317) help
..expandIntrapulmonary shunt (HP:0031225) help
..expandPulmonary venous hypertension (HP:0030950) 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:0002204HP:0002204Pulmonary embolism0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0002204HP:0002204Pulmonary embolism0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040282 - Frequent1
HP:0002204HP:0002204Pulmonary embolism0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0002204HP:0002204Pulmonary embolism0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002204HP:0002204Pulmonary embolism0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040282 - Frequent242
HP:0002204HP:0002204Pulmonary embolism0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002204HP:0002204Pulmonary embolism0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0002204HP:0002204Pulmonary embolism0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0002204HP:0002204Pulmonary embolism0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002204HP:0002204Pulmonary embolism0F13A1 CL E G H21623531OMIM:188050Thrombophiliavenous thromboembolism, included.60
HP:0002204HP:0002204Pulmonary embolism0F2 CL E G H21473535OMIM:188050Thrombophiliavenous thromboembolism, included.44
HP:0002204HP:0002204Pulmonary embolism0F8 CL E G H21573546OMIM:301071THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13303
HP:0002204HP:0002204Pulmonary embolism0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0002204HP:0002204Pulmonary embolism0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0002204HP:0002204Pulmonary embolism0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040283 - Occasional7
HP:0002204HP:0002204Pulmonary embolism0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0002204HP:0002204Pulmonary embolism0HABP2 CL E G H30264798OMIM:188050Thrombophiliavenous thromboembolism, included.58
HP:0002204HP:0002204Pulmonary embolism0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0002204HP:0002204Pulmonary embolism0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0002204HP:0002204Pulmonary embolism0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0002204HP:0002204Pulmonary embolism0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002204HP:0002204Pulmonary embolism0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002204HP:0002204Pulmonary embolism0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0002204HP:0002204Pulmonary embolism0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040283 - Occasional57
HP:0002204HP:0002204Pulmonary embolism0KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13.128
HP:0002204HP:0002204Pulmonary embolism0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002204HP:0002204Pulmonary embolism0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0002204HP:0002204Pulmonary embolism0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040284 - Very rare101
HP:0002204HP:0002204Pulmonary embolism0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040283 - Occasional97
HP:0002204HP:0002204Pulmonary embolism0MTHFR CL E G H45247436OMIM:188050Thrombophiliavenous thromboembolism, included.183
HP:0002204HP:0002204Pulmonary embolism0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0002204HP:0002204Pulmonary embolism0PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 2HP:0040283 - Occasional60
HP:0002204HP:0002204Pulmonary embolism0PROC CL E G H56249451ORPHA:745Severe hereditary thrombophilia due to congenital protein C deficiencyHP:0040283 - Occasional65
HP:0002204HP:0002204Pulmonary embolism0PROC CL E G H56249451OMIM:612304Thrombophilia due to protein C deficiency, autosomal recessive.65
HP:0002204HP:0002204Pulmonary embolism0PROC CL E G H56249451OMIM:176860Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant.65
HP:0002204HP:0002204Pulmonary embolism0PROS1 CL E G H56279456ORPHA:743Severe hereditary thrombophilia due to congenital protein S deficiencyHP:0040283 - Occasional75
HP:0002204HP:0002204Pulmonary embolism0PROS1 CL E G H56279456OMIM:614514Thrombophilia due to protein S deficiency, autosomal recessive.75
HP:0002204HP:0002204Pulmonary embolism0PROS1 CL E G H56279456OMIM:612336Thrombophilia, hereditary, due to protein S deficiency, autosomal.75
HP:0002204HP:0002204Pulmonary embolism0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0002204HP:0002204Pulmonary embolism0SERPINC1 CL E G H462775OMIM:613118Antithrombin III deficiency.88
HP:0002204HP:0002204Pulmonary embolism0SERPINC1 CL E G H462775ORPHA:82Hereditary thrombophilia due to congenital antithrombin deficiencyHP:0040282 - Frequent88
HP:0002204HP:0002204Pulmonary embolism0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0002204HP:0002204Pulmonary embolism0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0002204HP:0002204Pulmonary embolism0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040283 - Occasional3
HP:0002204HP:0002204Pulmonary embolism0THBD CL E G H705611784OMIM:614486Thrombophilia due to thrombomodulin defect60
HP:0002204HP:0002204Pulmonary embolism0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0002204HP:0002204Pulmonary embolism0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0002204HP:0033426Pulmonary air embolism1 CL E G H
HP:0002204HP:0032008Pulmonary fat embolism1 CL E G H


Genes (41) :ACVRL1 AGGF1 AKT1 C4A CBS CCR1 CD55 ENG ERAP1 F13A1 F2 F8 FAS GDF2 GNAQ HABP2 HLA-B IFNGR1 IL10 IL12A IL12A-AS1 IL23R JAK2 KCNJ5 KLRC4 MEFV MMACHC MPL MTHFR PIGA PLP1 PROC PROS1 PTEN SERPINC1 SMAD4 STAT4 TET2 THBD TLR4 UBAC2

Diseases (24) :ORPHA:774 ORPHA:90308 ORPHA:744 ORPHA:117 ORPHA:394 OMIM:226300 OMIM:188050 OMIM:301071 ORPHA:624 ORPHA:3205 ORPHA:729 OMIM:613485 ORPHA:79282 ORPHA:447 ORPHA:99015 ORPHA:745 OMIM:612304 OMIM:176860 ORPHA:743 OMIM:614514 OMIM:612336 OMIM:613118 ORPHA:82 OMIM:614486
 

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