Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Dyspnea (HP:0002094)help
..Starting node
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Paroxysmal dyspnea (HP:0012763)help
Term ID: 12763
Name: Paroxysmal dyspnea
Synonym: Paroxysmal dyspnoea
Definition: A sudden attack of dyspnea that occurs while the affected person is at rest.
Comments:
Reference: HP:0012763
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandExertional dyspnea (HP:0002875) help
..expandOrthopnea (HP:0012764) help
..expandRespiratory distress (HP:0002098) 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:0012763HP:0012763Paroxysmal dyspnea0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent94
HP:0012763HP:0012763Paroxysmal dyspnea0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent172
HP:0012763HP:0012763Paroxysmal dyspnea0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent1361
HP:0012763HP:0012763Paroxysmal dyspnea0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent23
HP:0012763HP:0012763Paroxysmal dyspnea0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0012763HP:0012763Paroxysmal dyspnea0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent
HP:0012763HP:0012763Paroxysmal dyspnea0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent6
HP:0012763HP:0012763Paroxysmal dyspnea0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent13
HP:0012763HP:0012763Paroxysmal dyspnea0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent11
HP:0012763HP:0012763Paroxysmal dyspnea0MYH11 CL E G H46297569ORPHA:229Familial aortic dissectionHP:0040282 - Frequent418
HP:0012763HP:0012763Paroxysmal dyspnea0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent418
HP:0012763HP:0012763Paroxysmal dyspnea0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent326
HP:0012763HP:0012763Paroxysmal dyspnea0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent41
HP:0012763HP:0012763Paroxysmal dyspnea0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent7
HP:0012763HP:0012763Paroxysmal dyspnea0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent260
HP:0012763HP:0012763Paroxysmal dyspnea0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent504
HP:0012763HP:0012763Paroxysmal dyspnea0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent162
HP:0012763HP:0012763Paroxysmal dyspnea0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent85
HP:0012763HP:0012763Paroxysmal dyspnea0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent239
HP:0012763HP:0012763Paroxysmal dyspnea0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent253


Genes (19) :ACTA2 ELN FBN1 FOXE3 GTPBP3 HEY2 LOX MAT2A MFAP5 MYH11 MYLK PRKG1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2

Diseases (3) :ORPHA:91387 ORPHA:444013 ORPHA:229
 

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