Human Phenotype Ontology 
Grandparent Node:
expand
Constitutional symptom (HP:0025142)help
Parent Node:
expand
Abnormal thorax morphology (HP:0000765)help
Parent Node:
expand
Pain (HP:0012531)help
..Starting node
..expand
Chest pain (HP:0100749)help
Term ID: 100749
Name: Chest pain
Synonym: Chest discomfort; Chest pain; Thoracic pain
Definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Comments:
Reference: HP:0100749
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbdominal pain (HP:0002027) help
..expandAllodynia (HP:0012533) help
..expandAnal pain (HP:0500005) help
..expandAnkle pain (HP:0030840) help
..expandArthralgia (HP:0002829) help
..expandBack pain (HP:0003418) help
..expandBone pain (HP:0002653) help
..expandChronic pain (HP:0012532) help
..expandCostochondral pain (HP:0006649) help
..expandEar pain (HP:0030766) help
..expandElbow pain (HP:0030835) help
..expandEpigastric pain (HP:0410019) help
..expandFinger pain (HP:0030837) help
..expandFlank pain (HP:0030157) help
..expandFoot pain (HP:0025238) help
..expandGroin pain (HP:0031520) help
..expandHip pain (HP:0030838) help
..expandJaw pain (HP:0040264) help
..expandKnee pain (HP:0030839) help
..expandLimb pain (HP:0009763) help
..expandMandibular pain (HP:0200025) help
..expandMyalgia (HP:0003326) help
..expandNeck pain (HP:0030833) help
..expandOcular pain (HP:0200026) help
..expandScrotal pain (HP:0030155) help
..expandShoulder pain (HP:0030834) help
..expandToe pain (HP:0030841) help
..expandVulvodynia (HP:0030943) help
..expandWrist pain (HP:0030836) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100749HP:0100749Chest pain0ACTA2 CL E G H5991387ORPHA1387130102620
HP:0100749HP:0100749Chest pain0ACTA2 CL E G H5991387ORPHA1362130102620
HP:0100749HP:0100749Chest pain0BTNL2 CL E G H56244797ORPHA1191142606000
HP:0100749HP:0100749Chest pain0CALR CL E G H8113318ORPHA1431455109091
HP:0100749HP:0100749Chest pain0CALR CL E G H8113318ORPHA1391455109091
HP:0100749HP:0100749Chest pain0CTLA4 CL E G H1493900ORPHA11462505123890
HP:0100749HP:0100749Chest pain0CTLA4 CL E G H1493900ORPHA11722505123890
HP:0100749HP:0100749Chest pain0DLEC1 CL E G H994099977ORPHA1412899604050
HP:0100749HP:0100749Chest pain0DLEC1 CL E G H994099977ORPHA1392899604050
HP:0100749HP:0100749Chest pain0DPM3 CL E G H54344263494ORPHA1593007605951
HP:0100749HP:0100749Chest pain0DPM3 CL E G H54344263494ORPHA1503007605951
HP:0100749HP:0100749Chest pain0ELN CL E G H200691387ORPHA16573327130160
HP:0100749HP:0100749Chest pain0ELN CL E G H200691387ORPHA17043327130160
HP:0100749HP:0100749Chest pain0FBN1 CL E G H220091387ORPHA154573603134797
HP:0100749HP:0100749Chest pain0FBN1 CL E G H220091387ORPHA149683603134797
HP:0100749HP:0100749Chest pain0FH CL E G H227129072ORPHA112923700136850
HP:0100749HP:0100749Chest pain0FH CL E G H227129072ORPHA111363700136850
HP:0100749HP:0100749Chest pain0FOXE3 CL E G H230191387ORPHA11523808601094
HP:0100749HP:0100749Chest pain0FOXE3 CL E G H230191387ORPHA11763808601094
HP:0100749HP:0100749Chest pain0HBB CL E G H3043232Medullary sponge kidneyORPHA112834827141900
HP:0100749HP:0100749Chest pain0HBB CL E G H3043232Medullary sponge kidneyORPHA112704827141900
HP:0100749HP:0100749Chest pain0HLA-B CL E G H31063287ORPHA1184932142830
HP:0100749HP:0100749Chest pain0HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100749HP:0100749Chest pain0HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100749HP:0100749Chest pain0HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0100749HP:0100749Chest pain0IL12B CL E G H35933287ORPHA11565970161561
HP:0100749HP:0100749Chest pain0IL12B CL E G H35933287ORPHA11355970161561
HP:0100749HP:0100749Chest pain0JAK2 CL E G H371771493ORPHA12646192147796
HP:0100749HP:0100749Chest pain0JAK2 CL E G H37173318ORPHA12646192147796
HP:0100749HP:0100749Chest pain0JAK2 CL E G H37173318ORPHA12736192147796
HP:0100749HP:0100749Chest pain0JAK2 CL E G H371771493ORPHA12736192147796
HP:0100749HP:0100749Chest pain0KIF1B CL E G H2309529072ORPHA174216636605995
HP:0100749HP:0100749Chest pain0KIF1B CL E G H2309529072ORPHA187116636605995
HP:0100749HP:0100749Chest pain0LOX CL E G H401591387ORPHA11656664153455
HP:0100749HP:0100749Chest pain0LOX CL E G H401591387ORPHA11206664153455
HP:0100749HP:0100749Chest pain0MAT2A CL E G H414491387ORPHA11076904601468
HP:0100749HP:0100749Chest pain0MAT2A CL E G H414491387ORPHA11156904601468
HP:0100749HP:0100749Chest pain0MAX CL E G H414929072ORPHA13046913154950
HP:0100749HP:0100749Chest pain0MAX CL E G H414929072ORPHA12666913154950
HP:0100749HP:0100749Chest pain0MDH2 CL E G H419129072ORPHA1906971154100
HP:0100749HP:0100749Chest pain0MDH2 CL E G H419129072ORPHA11696971154100
HP:0100749HP:0100749Chest pain0MEFV CL E G H4210342ORPHA17376998608107
HP:0100749HP:0100749Chest pain0MEFV CL E G H4210342ORPHA17956998608107
HP:0100749HP:0100749Chest pain0MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM17376998608107
HP:0100749HP:0100749Chest pain0MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM17956998608107
HP:0100749HP:0100749Chest pain0MFAP5 CL E G H807691387ORPHA113329673601103
HP:0100749HP:0100749Chest pain0MFAP5 CL E G H807691387ORPHA111729673601103
HP:0100749HP:0100749Chest pain0MLX CL E G H69453287ORPHA12011645602976
HP:0100749HP:0100749Chest pain0MPL CL E G H435271493ORPHA13677217159530
HP:0100749HP:0100749Chest pain0MPL CL E G H43523318ORPHA13677217159530
HP:0100749HP:0100749Chest pain0MPL CL E G H435271493ORPHA13147217159530
HP:0100749HP:0100749Chest pain0MPL CL E G H43523318ORPHA13147217159530
HP:0100749HP:0100749Chest pain0MYH11 CL E G H4629229ORPHA123297569160745
HP:0100749HP:0100749Chest pain0MYH11 CL E G H462991387ORPHA123297569160745
HP:0100749HP:0100749Chest pain0MYH11 CL E G H4629229ORPHA124637569160745
HP:0100749HP:0100749Chest pain0MYH11 CL E G H462991387ORPHA124637569160745
HP:0100749HP:0100749Chest pain0MYH7 CL E G H46251880ORPHA129607577160760
HP:0100749HP:0100749Chest pain0MYH7 CL E G H46251880ORPHA132927577160760
HP:0100749HP:0100749Chest pain0MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14067583160781
HP:0100749HP:0100749Chest pain0MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM13557583160781
HP:0100749HP:0100749Chest pain0MYLK CL E G H463891387ORPHA112087590600922
HP:0100749HP:0100749Chest pain0MYLK CL E G H463891387ORPHA110927590600922
HP:0100749HP:0100749Chest pain0PLN CL E G H5350613874Familial hypertrophic cardiomyopathy 18613874C3151265OMIM11529080172405
HP:0100749HP:0100749Chest pain0PLN CL E G H5350613874Familial hypertrophic cardiomyopathy 18613874C3151265OMIM11439080172405
HP:0100749HP:0100749Chest pain0PRKG1 CL E G H559291387ORPHA13909414176894
HP:0100749HP:0100749Chest pain0PRKG1 CL E G H559291387ORPHA14319414176894
HP:0100749HP:0100749Chest pain0PRTN3 CL E G H5657900ORPHA1449495177020
HP:0100749HP:0100749Chest pain0PRTN3 CL E G H5657900ORPHA1469495177020
HP:0100749HP:0100749Chest pain0PTPN22 CL E G H26191900ORPHA1319652600716
HP:0100749HP:0100749Chest pain0RET CL E G H597929072ORPHA120509967164761
HP:0100749HP:0100749Chest pain0RET CL E G H597929072ORPHA118079967164761
HP:0100749HP:0100749Chest pain0RNF6 CL E G H604999977ORPHA13910069604242
HP:0100749HP:0100749Chest pain0RNF6 CL E G H604999977ORPHA14110069604242
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999736ORPHA1108110591603967
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999736ORPHA1124110591603967
HP:0100749HP:0100749Chest pain0SDHA CL E G H638929072ORPHA1154510680600857
HP:0100749HP:0100749Chest pain0SDHA CL E G H638929072ORPHA1177810680600857
HP:0100749HP:0100749Chest pain0SDHAF2 CL E G H5494929072ORPHA131826034613019
HP:0100749HP:0100749Chest pain0SDHAF2 CL E G H5494929072ORPHA127526034613019
HP:0100749HP:0100749Chest pain0SDHB CL E G H639029072ORPHA182410681185470
HP:0100749HP:0100749Chest pain0SDHB CL E G H639029072ORPHA192610681185470
HP:0100749HP:0100749Chest pain0SDHC CL E G H639129072ORPHA157510682602413
HP:0100749HP:0100749Chest pain0SDHC CL E G H639129072ORPHA152610682602413
HP:0100749HP:0100749Chest pain0SDHD CL E G H639229072ORPHA144210683602690
HP:0100749HP:0100749Chest pain0SDHD CL E G H639229072ORPHA150710683602690
HP:0100749HP:0100749Chest pain0SH2B3 CL E G H100193318ORPHA14329605605093
HP:0100749HP:0100749Chest pain0SH2B3 CL E G H100193318ORPHA14829605605093
HP:0100749HP:0100749Chest pain0SMAD3 CL E G H408891387ORPHA17586769603109
HP:0100749HP:0100749Chest pain0SMAD3 CL E G H408891387ORPHA16966769603109
HP:0100749HP:0100749Chest pain0TET2 CL E G H547903318ORPHA110225941612839
HP:0100749HP:0100749Chest pain0TET2 CL E G H547903318ORPHA18525941612839
HP:0100749HP:0100749Chest pain0TGFB2 CL E G H704291387ORPHA141811768190220
HP:0100749HP:0100749Chest pain0TGFB2 CL E G H704291387ORPHA145511768190220
HP:0100749HP:0100749Chest pain0TGFB3 CL E G H704391387ORPHA138711769190230
HP:0100749HP:0100749Chest pain0TGFB3 CL E G H704391387ORPHA135711769190230
HP:0100749HP:0100749Chest pain0TGFBR1 CL E G H704691387ORPHA161911772190181
HP:0100749HP:0100749Chest pain0TGFBR1 CL E G H704691387ORPHA167711772190181
HP:0100749HP:0100749Chest pain0TGFBR2 CL E G H704899977ORPHA175011773190182
HP:0100749HP:0100749Chest pain0TGFBR2 CL E G H704891387ORPHA175011773190182
HP:0100749HP:0100749Chest pain0TGFBR2 CL E G H704899977ORPHA169411773190182
HP:0100749HP:0100749Chest pain0TGFBR2 CL E G H704891387ORPHA169411773190182
HP:0100749HP:0100749Chest pain0THPO CL E G H706671493ORPHA110911795600044
HP:0100749HP:0100749Chest pain0THPO CL E G H706671493ORPHA111111795600044
HP:0100749HP:0100749Chest pain0TMEM127 CL E G H5565429072ORPHA159626038613403
HP:0100749HP:0100749Chest pain0TMEM127 CL E G H5565429072ORPHA153226038613403
HP:0100749HP:0100749Chest pain0TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM158528472612048
HP:0100749HP:0100749Chest pain0TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM165328472612048
HP:0100749HP:0100749Chest pain0TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM118511943191040
HP:0100749HP:0100749Chest pain0TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM120711943191040
HP:0100749HP:0100749Chest pain0TP53 CL E G H71573318ORPHA1228011998191170
HP:0100749HP:0100749Chest pain0TP53 CL E G H71573318ORPHA1246411998191170
HP:0100749HP:0100749Chest pain0TSC1 CL E G H7248538ORPHA1318512362605284
HP:0100749HP:0100749Chest pain0TSC1 CL E G H7248538ORPHA1285712362605284
HP:0100749HP:0100749Chest pain0TSC2 CL E G H7249538ORPHA1662912363191092
HP:0100749HP:0100749Chest pain0TSC2 CL E G H7249538ORPHA1731612363191092
HP:0100749HP:0100749Chest pain0VHL CL E G H742829072ORPHA1135712687608537
HP:0100749HP:0100749Chest pain0VHL CL E G H742829072ORPHA1152412687608537
HP:0100749HP:0100749Chest pain0WWOX CL E G H5174199977ORPHA176712799605131
HP:0100749HP:0100749Chest pain0WWOX CL E G H5174199977ORPHA187912799605131
HP:0100749HP:0032141Precordial pain1ACTA2 CL E G H5991387ORPHA1362130102620
HP:0100749HP:0033771Pleuritic chest pain1ACTA2 CL E G H5991387ORPHA1387130102620
HP:0100749HP:0033771Pleuritic chest pain1ACTA2 CL E G H5991387ORPHA1362130102620
HP:0100749HP:0032141Precordial pain1ACTA2 CL E G H5991387ORPHA1387130102620
HP:0100749HP:0032141Precordial pain1BTNL2 CL E G H56244797ORPHA1191142606000
HP:0100749HP:0033771Pleuritic chest pain1BTNL2 CL E G H56244797ORPHA1191142606000
HP:0100749HP:0032141Precordial pain1CALR CL E G H8113318ORPHA1391455109091
HP:0100749HP:0033771Pleuritic chest pain1CALR CL E G H8113318ORPHA1431455109091
HP:0100749HP:0033771Pleuritic chest pain1CALR CL E G H8113318ORPHA1391455109091
HP:0100749HP:0032141Precordial pain1CALR CL E G H8113318ORPHA1431455109091
HP:0100749HP:0033771Pleuritic chest pain1CTLA4 CL E G H1493900ORPHA11462505123890
HP:0100749HP:0032141Precordial pain1CTLA4 CL E G H1493900ORPHA11722505123890
HP:0100749HP:0032141Precordial pain1CTLA4 CL E G H1493900ORPHA11462505123890
HP:0100749HP:0033771Pleuritic chest pain1CTLA4 CL E G H1493900ORPHA11722505123890
HP:0100749HP:0032141Precordial pain1DLEC1 CL E G H994099977ORPHA1392899604050
HP:0100749HP:0033771Pleuritic chest pain1DLEC1 CL E G H994099977ORPHA1412899604050
HP:0100749HP:0033771Pleuritic chest pain1DLEC1 CL E G H994099977ORPHA1392899604050
HP:0100749HP:0032141Precordial pain1DLEC1 CL E G H994099977ORPHA1412899604050
HP:0100749HP:0032141Precordial pain1DPM3 CL E G H54344263494ORPHA1503007605951
HP:0100749HP:0033771Pleuritic chest pain1DPM3 CL E G H54344263494ORPHA1593007605951
HP:0100749HP:0033771Pleuritic chest pain1DPM3 CL E G H54344263494ORPHA1503007605951
HP:0100749HP:0032141Precordial pain1DPM3 CL E G H54344263494ORPHA1593007605951
HP:0100749HP:0033771Pleuritic chest pain1ELN CL E G H200691387ORPHA16573327130160
HP:0100749HP:0032141Precordial pain1ELN CL E G H200691387ORPHA17043327130160
HP:0100749HP:0032141Precordial pain1ELN CL E G H200691387ORPHA16573327130160
HP:0100749HP:0033771Pleuritic chest pain1ELN CL E G H200691387ORPHA17043327130160
HP:0100749HP:0032141Precordial pain1FBN1 CL E G H220091387ORPHA149683603134797
HP:0100749HP:0033771Pleuritic chest pain1FBN1 CL E G H220091387ORPHA154573603134797
HP:0100749HP:0033771Pleuritic chest pain1FBN1 CL E G H220091387ORPHA149683603134797
HP:0100749HP:0032141Precordial pain1FBN1 CL E G H220091387ORPHA154573603134797
HP:0100749HP:0032141Precordial pain1FH CL E G H227129072ORPHA111363700136850
HP:0100749HP:0033771Pleuritic chest pain1FH CL E G H227129072ORPHA112923700136850
HP:0100749HP:0033771Pleuritic chest pain1FH CL E G H227129072ORPHA111363700136850
HP:0100749HP:0032141Precordial pain1FH CL E G H227129072ORPHA112923700136850
HP:0100749HP:0033771Pleuritic chest pain1FOXE3 CL E G H230191387ORPHA11523808601094
HP:0100749HP:0032141Precordial pain1FOXE3 CL E G H230191387ORPHA11763808601094
HP:0100749HP:0032141Precordial pain1FOXE3 CL E G H230191387ORPHA11523808601094
HP:0100749HP:0033771Pleuritic chest pain1FOXE3 CL E G H230191387ORPHA11763808601094
HP:0100749HP:0032141Precordial pain1HBB CL E G H3043232Medullary sponge kidneyORPHA112704827141900
HP:0100749HP:0033771Pleuritic chest pain1HBB CL E G H3043232Medullary sponge kidneyORPHA112834827141900
HP:0100749HP:0033771Pleuritic chest pain1HBB CL E G H3043232Medullary sponge kidneyORPHA112704827141900
HP:0100749HP:0032141Precordial pain1HBB CL E G H3043232Medullary sponge kidneyORPHA112834827141900
HP:0100749HP:0032141Precordial pain1HLA-B CL E G H31063287ORPHA1184932142830
HP:0100749HP:0033771Pleuritic chest pain1HLA-B CL E G H31063287ORPHA1184932142830
HP:0100749HP:0032141Precordial pain1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100749HP:0033771Pleuritic chest pain1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100749HP:0032141Precordial pain1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100749HP:0033771Pleuritic chest pain1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100749HP:0032141Precordial pain1HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0100749HP:0033771Pleuritic chest pain1HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0100749HP:0032141Precordial pain1IL12B CL E G H35933287ORPHA11565970161561
HP:0100749HP:0032141Precordial pain1IL12B CL E G H35933287ORPHA11355970161561
HP:0100749HP:0033771Pleuritic chest pain1IL12B CL E G H35933287ORPHA11565970161561
HP:0100749HP:0033771Pleuritic chest pain1IL12B CL E G H35933287ORPHA11355970161561
HP:0100749HP:0033771Pleuritic chest pain1JAK2 CL E G H371771493ORPHA12646192147796
HP:0100749HP:0033771Pleuritic chest pain1JAK2 CL E G H37173318ORPHA12646192147796
HP:0100749HP:0032141Precordial pain1JAK2 CL E G H371771493ORPHA12736192147796
HP:0100749HP:0032141Precordial pain1JAK2 CL E G H37173318ORPHA12736192147796
HP:0100749HP:0032141Precordial pain1JAK2 CL E G H371771493ORPHA12646192147796
HP:0100749HP:0032141Precordial pain1JAK2 CL E G H37173318ORPHA12646192147796
HP:0100749HP:0033771Pleuritic chest pain1JAK2 CL E G H371771493ORPHA12736192147796
HP:0100749HP:0033771Pleuritic chest pain1JAK2 CL E G H37173318ORPHA12736192147796
HP:0100749HP:0033771Pleuritic chest pain1KIF1B CL E G H2309529072ORPHA174216636605995
HP:0100749HP:0032141Precordial pain1KIF1B CL E G H2309529072ORPHA187116636605995
HP:0100749HP:0032141Precordial pain1KIF1B CL E G H2309529072ORPHA174216636605995
HP:0100749HP:0033771Pleuritic chest pain1KIF1B CL E G H2309529072ORPHA187116636605995
HP:0100749HP:0032141Precordial pain1LOX CL E G H401591387ORPHA11206664153455
HP:0100749HP:0033771Pleuritic chest pain1LOX CL E G H401591387ORPHA11656664153455
HP:0100749HP:0033771Pleuritic chest pain1LOX CL E G H401591387ORPHA11206664153455
HP:0100749HP:0032141Precordial pain1LOX CL E G H401591387ORPHA11656664153455
HP:0100749HP:0033771Pleuritic chest pain1MAT2A CL E G H414491387ORPHA11076904601468
HP:0100749HP:0032141Precordial pain1MAT2A CL E G H414491387ORPHA11156904601468
HP:0100749HP:0032141Precordial pain1MAT2A CL E G H414491387ORPHA11076904601468
HP:0100749HP:0033771Pleuritic chest pain1MAT2A CL E G H414491387ORPHA11156904601468
HP:0100749HP:0032141Precordial pain1MAX CL E G H414929072ORPHA12666913154950
HP:0100749HP:0033771Pleuritic chest pain1MAX CL E G H414929072ORPHA13046913154950
HP:0100749HP:0033771Pleuritic chest pain1MAX CL E G H414929072ORPHA12666913154950
HP:0100749HP:0032141Precordial pain1MAX CL E G H414929072ORPHA13046913154950
HP:0100749HP:0033771Pleuritic chest pain1MDH2 CL E G H419129072ORPHA1906971154100
HP:0100749HP:0032141Precordial pain1MDH2 CL E G H419129072ORPHA11696971154100
HP:0100749HP:0032141Precordial pain1MDH2 CL E G H419129072ORPHA1906971154100
HP:0100749HP:0033771Pleuritic chest pain1MDH2 CL E G H419129072ORPHA11696971154100
HP:0100749HP:0033771Pleuritic chest pain1MEFV CL E G H4210342ORPHA17376998608107
HP:0100749HP:0032141Precordial pain1MEFV CL E G H4210342ORPHA17956998608107
HP:0100749HP:0032141Precordial pain1MEFV CL E G H4210342ORPHA17376998608107
HP:0100749HP:0033771Pleuritic chest pain1MEFV CL E G H4210342ORPHA17956998608107
HP:0100749HP:0033771Pleuritic chest pain1MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM17376998608107
HP:0100749HP:0032141Precordial pain1MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM17956998608107
HP:0100749HP:0032141Precordial pain1MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM17376998608107
HP:0100749HP:0033771Pleuritic chest pain1MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM17956998608107
HP:0100749HP:0032141Precordial pain1MFAP5 CL E G H807691387ORPHA111729673601103
HP:0100749HP:0033771Pleuritic chest pain1MFAP5 CL E G H807691387ORPHA113329673601103
HP:0100749HP:0033771Pleuritic chest pain1MFAP5 CL E G H807691387ORPHA111729673601103
HP:0100749HP:0032141Precordial pain1MFAP5 CL E G H807691387ORPHA113329673601103
HP:0100749HP:0032141Precordial pain1MLX CL E G H69453287ORPHA12011645602976
HP:0100749HP:0033771Pleuritic chest pain1MLX CL E G H69453287ORPHA12011645602976
HP:0100749HP:0032141Precordial pain1MPL CL E G H435271493ORPHA13147217159530
HP:0100749HP:0032141Precordial pain1MPL CL E G H43523318ORPHA13147217159530
HP:0100749HP:0033771Pleuritic chest pain1MPL CL E G H43523318ORPHA13677217159530
HP:0100749HP:0033771Pleuritic chest pain1MPL CL E G H435271493ORPHA13677217159530
HP:0100749HP:0033771Pleuritic chest pain1MPL CL E G H43523318ORPHA13147217159530
HP:0100749HP:0033771Pleuritic chest pain1MPL CL E G H435271493ORPHA13147217159530
HP:0100749HP:0032141Precordial pain1MPL CL E G H435271493ORPHA13677217159530
HP:0100749HP:0032141Precordial pain1MPL CL E G H43523318ORPHA13677217159530
HP:0100749HP:0033771Pleuritic chest pain1MYH11 CL E G H4629229ORPHA123297569160745
HP:0100749HP:0033771Pleuritic chest pain1MYH11 CL E G H462991387ORPHA123297569160745
HP:0100749HP:0032141Precordial pain1MYH11 CL E G H4629229ORPHA124637569160745
HP:0100749HP:0032141Precordial pain1MYH11 CL E G H462991387ORPHA124637569160745
HP:0100749HP:0032141Precordial pain1MYH11 CL E G H4629229ORPHA123297569160745
HP:0100749HP:0032141Precordial pain1MYH11 CL E G H462991387ORPHA123297569160745
HP:0100749HP:0033771Pleuritic chest pain1MYH11 CL E G H4629229ORPHA124637569160745
HP:0100749HP:0033771Pleuritic chest pain1MYH11 CL E G H462991387ORPHA124637569160745
HP:0100749HP:0033771Pleuritic chest pain1MYH7 CL E G H46251880ORPHA129607577160760
HP:0100749HP:0032141Precordial pain1MYH7 CL E G H46251880ORPHA132927577160760
HP:0100749HP:0032141Precordial pain1MYH7 CL E G H46251880ORPHA129607577160760
HP:0100749HP:0033771Pleuritic chest pain1MYH7 CL E G H46251880ORPHA132927577160760
HP:0100749HP:0032141Precordial pain1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM13557583160781
HP:0100749HP:0033771Pleuritic chest pain1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14067583160781
HP:0100749HP:0033771Pleuritic chest pain1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM13557583160781
HP:0100749HP:0032141Precordial pain1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM14067583160781
HP:0100749HP:0032141Precordial pain1MYLK CL E G H463891387ORPHA110927590600922
HP:0100749HP:0033771Pleuritic chest pain1MYLK CL E G H463891387ORPHA112087590600922
HP:0100749HP:0033771Pleuritic chest pain1MYLK CL E G H463891387ORPHA110927590600922
HP:0100749HP:0032141Precordial pain1MYLK CL E G H463891387ORPHA112087590600922
HP:0100749HP:0032141Precordial pain1PLN CL E G H5350613874Familial hypertrophic cardiomyopathy 18613874C3151265OMIM11439080172405
HP:0100749HP:0033771Pleuritic chest pain1PLN CL E G H5350613874Familial hypertrophic cardiomyopathy 18613874C3151265OMIM11529080172405
HP:0100749HP:0033771Pleuritic chest pain1PLN CL E G H5350613874Familial hypertrophic cardiomyopathy 18613874C3151265OMIM11439080172405
HP:0100749HP:0032141Precordial pain1PLN CL E G H5350613874Familial hypertrophic cardiomyopathy 18613874C3151265OMIM11529080172405
HP:0100749HP:0033771Pleuritic chest pain1PRKG1 CL E G H559291387ORPHA13909414176894
HP:0100749HP:0032141Precordial pain1PRKG1 CL E G H559291387ORPHA14319414176894
HP:0100749HP:0032141Precordial pain1PRKG1 CL E G H559291387ORPHA13909414176894
HP:0100749HP:0033771Pleuritic chest pain1PRKG1 CL E G H559291387ORPHA14319414176894
HP:0100749HP:0033771Pleuritic chest pain1PRTN3 CL E G H5657900ORPHA1449495177020
HP:0100749HP:0032141Precordial pain1PRTN3 CL E G H5657900ORPHA1469495177020
HP:0100749HP:0032141Precordial pain1PRTN3 CL E G H5657900ORPHA1449495177020
HP:0100749HP:0033771Pleuritic chest pain1PRTN3 CL E G H5657900ORPHA1469495177020
HP:0100749HP:0032141Precordial pain1PTPN22 CL E G H26191900ORPHA1319652600716
HP:0100749HP:0033771Pleuritic chest pain1PTPN22 CL E G H26191900ORPHA1319652600716
HP:0100749HP:0032141Precordial pain1RET CL E G H597929072ORPHA118079967164761
HP:0100749HP:0033771Pleuritic chest pain1RET CL E G H597929072ORPHA120509967164761
HP:0100749HP:0033771Pleuritic chest pain1RET CL E G H597929072ORPHA118079967164761
HP:0100749HP:0032141Precordial pain1RET CL E G H597929072ORPHA120509967164761
HP:0100749HP:0033771Pleuritic chest pain1RNF6 CL E G H604999977ORPHA13910069604242
HP:0100749HP:0032141Precordial pain1RNF6 CL E G H604999977ORPHA14110069604242
HP:0100749HP:0032141Precordial pain1RNF6 CL E G H604999977ORPHA13910069604242
HP:0100749HP:0033771Pleuritic chest pain1RNF6 CL E G H604999977ORPHA14110069604242
HP:0100749HP:0033771Pleuritic chest pain1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0100749HP:0032141Precordial pain1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0100749HP:0032141Precordial pain1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0100749HP:0033771Pleuritic chest pain1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0100749HP:0033771Pleuritic chest pain1SDHA CL E G H638929072ORPHA1154510680600857
HP:0100749HP:0032141Precordial pain1SDHA CL E G H638929072ORPHA1177810680600857
HP:0100749HP:0032141Precordial pain1SDHA CL E G H638929072ORPHA1154510680600857
HP:0100749HP:0033771Pleuritic chest pain1SDHA CL E G H638929072ORPHA1177810680600857
HP:0100749HP:0032141Precordial pain1SDHAF2 CL E G H5494929072ORPHA127526034613019
HP:0100749HP:0033771Pleuritic chest pain1SDHAF2 CL E G H5494929072ORPHA131826034613019
HP:0100749HP:0033771Pleuritic chest pain1SDHAF2 CL E G H5494929072ORPHA127526034613019
HP:0100749HP:0032141Precordial pain1SDHAF2 CL E G H5494929072ORPHA131826034613019
HP:0100749HP:0033771Pleuritic chest pain1SDHB CL E G H639029072ORPHA182410681185470
HP:0100749HP:0032141Precordial pain1SDHB CL E G H639029072ORPHA192610681185470
HP:0100749HP:0032141Precordial pain1SDHB CL E G H639029072ORPHA182410681185470
HP:0100749HP:0033771Pleuritic chest pain1SDHB CL E G H639029072ORPHA192610681185470
HP:0100749HP:0032141Precordial pain1SDHC CL E G H639129072ORPHA152610682602413
HP:0100749HP:0033771Pleuritic chest pain1SDHC CL E G H639129072ORPHA157510682602413
HP:0100749HP:0033771Pleuritic chest pain1SDHC CL E G H639129072ORPHA152610682602413
HP:0100749HP:0032141Precordial pain1SDHC CL E G H639129072ORPHA157510682602413
HP:0100749HP:0033771Pleuritic chest pain1SDHD CL E G H639229072ORPHA144210683602690
HP:0100749HP:0032141Precordial pain1SDHD CL E G H639229072ORPHA150710683602690
HP:0100749HP:0032141Precordial pain1SDHD CL E G H639229072ORPHA144210683602690
HP:0100749HP:0033771Pleuritic chest pain1SDHD CL E G H639229072ORPHA150710683602690
HP:0100749HP:0033771Pleuritic chest pain1SH2B3 CL E G H100193318ORPHA14329605605093
HP:0100749HP:0032141Precordial pain1SH2B3 CL E G H100193318ORPHA14829605605093
HP:0100749HP:0032141Precordial pain1SH2B3 CL E G H100193318ORPHA14329605605093
HP:0100749HP:0033771Pleuritic chest pain1SH2B3 CL E G H100193318ORPHA14829605605093
HP:0100749HP:0032141Precordial pain1SMAD3 CL E G H408891387ORPHA16966769603109
HP:0100749HP:0033771Pleuritic chest pain1SMAD3 CL E G H408891387ORPHA17586769603109
HP:0100749HP:0033771Pleuritic chest pain1SMAD3 CL E G H408891387ORPHA16966769603109
HP:0100749HP:0032141Precordial pain1SMAD3 CL E G H408891387ORPHA17586769603109
HP:0100749HP:0032141Precordial pain1TET2 CL E G H547903318ORPHA18525941612839
HP:0100749HP:0033771Pleuritic chest pain1TET2 CL E G H547903318ORPHA110225941612839
HP:0100749HP:0033771Pleuritic chest pain1TET2 CL E G H547903318ORPHA18525941612839
HP:0100749HP:0032141Precordial pain1TET2 CL E G H547903318ORPHA110225941612839
HP:0100749HP:0033771Pleuritic chest pain1TGFB2 CL E G H704291387ORPHA141811768190220
HP:0100749HP:0032141Precordial pain1TGFB2 CL E G H704291387ORPHA145511768190220
HP:0100749HP:0032141Precordial pain1TGFB2 CL E G H704291387ORPHA141811768190220
HP:0100749HP:0033771Pleuritic chest pain1TGFB2 CL E G H704291387ORPHA145511768190220
HP:0100749HP:0032141Precordial pain1TGFB3 CL E G H704391387ORPHA135711769190230
HP:0100749HP:0033771Pleuritic chest pain1TGFB3 CL E G H704391387ORPHA138711769190230
HP:0100749HP:0033771Pleuritic chest pain1TGFB3 CL E G H704391387ORPHA135711769190230
HP:0100749HP:0032141Precordial pain1TGFB3 CL E G H704391387ORPHA138711769190230
HP:0100749HP:0033771Pleuritic chest pain1TGFBR1 CL E G H704691387ORPHA161911772190181
HP:0100749HP:0032141Precordial pain1TGFBR1 CL E G H704691387ORPHA167711772190181
HP:0100749HP:0032141Precordial pain1TGFBR1 CL E G H704691387ORPHA161911772190181
HP:0100749HP:0033771Pleuritic chest pain1TGFBR1 CL E G H704691387ORPHA167711772190181
HP:0100749HP:0032141Precordial pain1TGFBR2 CL E G H704899977ORPHA169411773190182
HP:0100749HP:0032141Precordial pain1TGFBR2 CL E G H704891387ORPHA169411773190182
HP:0100749HP:0033771Pleuritic chest pain1TGFBR2 CL E G H704899977ORPHA175011773190182
HP:0100749HP:0033771Pleuritic chest pain1TGFBR2 CL E G H704891387ORPHA175011773190182
HP:0100749HP:0033771Pleuritic chest pain1TGFBR2 CL E G H704899977ORPHA169411773190182
HP:0100749HP:0033771Pleuritic chest pain1TGFBR2 CL E G H704891387ORPHA169411773190182
HP:0100749HP:0032141Precordial pain1TGFBR2 CL E G H704899977ORPHA175011773190182
HP:0100749HP:0032141Precordial pain1TGFBR2 CL E G H704891387ORPHA175011773190182
HP:0100749HP:0033771Pleuritic chest pain1THPO CL E G H706671493ORPHA110911795600044
HP:0100749HP:0032141Precordial pain1THPO CL E G H706671493ORPHA111111795600044
HP:0100749HP:0032141Precordial pain1THPO CL E G H706671493ORPHA110911795600044
HP:0100749HP:0033771Pleuritic chest pain1THPO CL E G H706671493ORPHA111111795600044
HP:0100749HP:0032141Precordial pain1TMEM127 CL E G H5565429072ORPHA153226038613403
HP:0100749HP:0033771Pleuritic chest pain1TMEM127 CL E G H5565429072ORPHA159626038613403
HP:0100749HP:0033771Pleuritic chest pain1TMEM127 CL E G H5565429072ORPHA153226038613403
HP:0100749HP:0032141Precordial pain1TMEM127 CL E G H5565429072ORPHA159626038613403
HP:0100749HP:0033771Pleuritic chest pain1TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM158528472612048
HP:0100749HP:0032141Precordial pain1TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM165328472612048
HP:0100749HP:0032141Precordial pain1TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM158528472612048
HP:0100749HP:0033771Pleuritic chest pain1TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM165328472612048
HP:0100749HP:0033771Pleuritic chest pain1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM118511943191040
HP:0100749HP:0032141Precordial pain1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM120711943191040
HP:0100749HP:0032141Precordial pain1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM118511943191040
HP:0100749HP:0033771Pleuritic chest pain1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM120711943191040
HP:0100749HP:0033771Pleuritic chest pain1TP53 CL E G H71573318ORPHA1228011998191170
HP:0100749HP:0032141Precordial pain1TP53 CL E G H71573318ORPHA1246411998191170
HP:0100749HP:0032141Precordial pain1TP53 CL E G H71573318ORPHA1228011998191170
HP:0100749HP:0033771Pleuritic chest pain1TP53 CL E G H71573318ORPHA1246411998191170
HP:0100749HP:0032141Precordial pain1TSC1 CL E G H7248538ORPHA1285712362605284
HP:0100749HP:0033771Pleuritic chest pain1TSC1 CL E G H7248538ORPHA1318512362605284
HP:0100749HP:0033771Pleuritic chest pain1TSC1 CL E G H7248538ORPHA1285712362605284
HP:0100749HP:0032141Precordial pain1TSC1 CL E G H7248538ORPHA1318512362605284
HP:0100749HP:0033771Pleuritic chest pain1TSC2 CL E G H7249538ORPHA1662912363191092
HP:0100749HP:0032141Precordial pain1TSC2 CL E G H7249538ORPHA1731612363191092
HP:0100749HP:0032141Precordial pain1TSC2 CL E G H7249538ORPHA1662912363191092
HP:0100749HP:0033771Pleuritic chest pain1TSC2 CL E G H7249538ORPHA1731612363191092
HP:0100749HP:0033771Pleuritic chest pain1VHL CL E G H742829072ORPHA1135712687608537
HP:0100749HP:0032141Precordial pain1VHL CL E G H742829072ORPHA1152412687608537
HP:0100749HP:0032141Precordial pain1VHL CL E G H742829072ORPHA1135712687608537
HP:0100749HP:0033771Pleuritic chest pain1VHL CL E G H742829072ORPHA1152412687608537
HP:0100749HP:0033771Pleuritic chest pain1WWOX CL E G H5174199977ORPHA176712799605131
HP:0100749HP:0032141Precordial pain1WWOX CL E G H5174199977ORPHA187912799605131
HP:0100749HP:0032141Precordial pain1WWOX CL E G H5174199977ORPHA176712799605131
HP:0100749HP:0033771Pleuritic chest pain1WWOX CL E G H5174199977ORPHA187912799605131
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100749HP:0100749Chest pain0APC CL E G H324873Bethlem myopathyC1834674ORPHA09051583611731
HP:0100749HP:0100749Chest pain0APC CL E G H324873Bethlem myopathyC1834674ORPHA09963583611731
HP:0100749HP:0100749Chest pain0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA03642514116806
HP:0100749HP:0100749Chest pain0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA02692514116806
HP:0100749HP:0100749Chest pain0GNAS CL E G H277879444ORPHA03334392139320
HP:0100749HP:0100749Chest pain0GNAS CL E G H277894089ORPHA03334392139320
HP:0100749HP:0100749Chest pain0GNAS CL E G H277879443ORPHA03714392139320
HP:0100749HP:0100749Chest pain0GNAS CL E G H277879443ORPHA03334392139320
HP:0100749HP:0100749Chest pain0GNAS CL E G H277879444ORPHA03714392139320
HP:0100749HP:0100749Chest pain0GNAS CL E G H277894089ORPHA03714392139320
HP:0100749HP:0100749Chest pain0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0100749HP:0100749Chest pain0PRKAR1A CL E G H5573615Alopecia universalis onychodystrophy vitiligoORPHA07259388188830
HP:0100749HP:0100749Chest pain0PRKAR1A CL E G H5573615Alopecia universalis onychodystrophy vitiligoORPHA06239388188830
HP:0100749HP:0100749Chest pain0RET CL E G H5979171400Multiple endocrine neoplasia, type 2a171400C0025268OMIM020509967164761
HP:0100749HP:0100749Chest pain0RET CL E G H5979171400Multiple endocrine neoplasia, type 2a171400C0025268OMIM018079967164761
HP:0100749HP:0100749Chest pain0SCN4A CL E G H6329682ORPHA0108110591603967
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999734ORPHA0108110591603967
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999735ORPHA0124110591603967
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999735ORPHA0108110591603967
HP:0100749HP:0100749Chest pain0SCN4A CL E G H6329682ORPHA0124110591603967
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999734ORPHA0124110591603967
HP:0100749HP:0100749Chest pain0STX16 CL E G H867594089ORPHA018311431603666
HP:0100749HP:0100749Chest pain0STX16 CL E G H867594089ORPHA018211431603666
HP:0100749HP:0100749Chest pain0TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0100749HP:0100749Chest pain0TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0100749HP:0100749Chest pain0WAS CL E G H7454906ORPHA046312731300392
HP:0100749HP:0100749Chest pain0WAS CL E G H7454906ORPHA041612731300392
HP:0100749HP:0100749Chest pain0WIPF1 CL E G H7456906ORPHA019412736602357
HP:0100749HP:0100749Chest pain0WIPF1 CL E G H7456906ORPHA015812736602357
HP:0100749HP:0033771Pleuritic chest pain1APC CL E G H324873Bethlem myopathyC1834674ORPHA09051583611731
HP:0100749HP:0032141Precordial pain1APC CL E G H324873Bethlem myopathyC1834674ORPHA09963583611731
HP:0100749HP:0032141Precordial pain1APC CL E G H324873Bethlem myopathyC1834674ORPHA09051583611731
HP:0100749HP:0033771Pleuritic chest pain1APC CL E G H324873Bethlem myopathyC1834674ORPHA09963583611731
HP:0100749HP:0032141Precordial pain1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA02692514116806
HP:0100749HP:0033771Pleuritic chest pain1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA03642514116806
HP:0100749HP:0033771Pleuritic chest pain1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA02692514116806
HP:0100749HP:0032141Precordial pain1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA03642514116806
HP:0100749HP:0033771Pleuritic chest pain1GNAS CL E G H277894089ORPHA03334392139320
HP:0100749HP:0032141Precordial pain1GNAS CL E G H277879443ORPHA03334392139320
HP:0100749HP:0033771Pleuritic chest pain1GNAS CL E G H277879444ORPHA03334392139320
HP:0100749HP:0032141Precordial pain1GNAS CL E G H277879444ORPHA03714392139320
HP:0100749HP:0032141Precordial pain1GNAS CL E G H277894089ORPHA03714392139320
HP:0100749HP:0033771Pleuritic chest pain1GNAS CL E G H277879443ORPHA03714392139320
HP:0100749HP:0032141Precordial pain1GNAS CL E G H277894089ORPHA03334392139320
HP:0100749HP:0033771Pleuritic chest pain1GNAS CL E G H277879443ORPHA03334392139320
HP:0100749HP:0032141Precordial pain1GNAS CL E G H277879444ORPHA03334392139320
HP:0100749HP:0033771Pleuritic chest pain1GNAS CL E G H277894089ORPHA03714392139320
HP:0100749HP:0032141Precordial pain1GNAS CL E G H277879443ORPHA03714392139320
HP:0100749HP:0033771Pleuritic chest pain1GNAS CL E G H277879444ORPHA03714392139320
HP:0100749HP:0032141Precordial pain1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0100749HP:0033771Pleuritic chest pain1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0100749HP:0032141Precordial pain1PRKAR1A CL E G H5573615Alopecia universalis onychodystrophy vitiligoORPHA06239388188830
HP:0100749HP:0033771Pleuritic chest pain1PRKAR1A CL E G H5573615Alopecia universalis onychodystrophy vitiligoORPHA07259388188830
HP:0100749HP:0033771Pleuritic chest pain1PRKAR1A CL E G H5573615Alopecia universalis onychodystrophy vitiligoORPHA06239388188830
HP:0100749HP:0032141Precordial pain1PRKAR1A CL E G H5573615Alopecia universalis onychodystrophy vitiligoORPHA07259388188830
HP:0100749HP:0032141Precordial pain1RET CL E G H5979171400Multiple endocrine neoplasia, type 2a171400C0025268OMIM018079967164761
HP:0100749HP:0033771Pleuritic chest pain1RET CL E G H5979171400Multiple endocrine neoplasia, type 2a171400C0025268OMIM020509967164761
HP:0100749HP:0033771Pleuritic chest pain1RET CL E G H5979171400Multiple endocrine neoplasia, type 2a171400C0025268OMIM018079967164761
HP:0100749HP:0032141Precordial pain1RET CL E G H5979171400Multiple endocrine neoplasia, type 2a171400C0025268OMIM020509967164761
HP:0100749HP:0032141Precordial pain1SCN4A CL E G H632999735ORPHA0108110591603967
HP:0100749HP:0033771Pleuritic chest pain1SCN4A CL E G H6329682ORPHA0108110591603967
HP:0100749HP:0033771Pleuritic chest pain1SCN4A CL E G H632999734ORPHA0108110591603967
HP:0100749HP:0033771Pleuritic chest pain1SCN4A CL E G H632999735ORPHA0124110591603967
HP:0100749HP:0032141Precordial pain1SCN4A CL E G H6329682ORPHA0124110591603967
HP:0100749HP:0032141Precordial pain1SCN4A CL E G H632999734ORPHA0124110591603967
HP:0100749HP:0032141Precordial pain1SCN4A CL E G H6329682ORPHA0108110591603967
HP:0100749HP:0032141Precordial pain1SCN4A CL E G H632999734ORPHA0108110591603967
HP:0100749HP:0033771Pleuritic chest pain1SCN4A CL E G H632999735ORPHA0108110591603967
HP:0100749HP:0032141Precordial pain1SCN4A CL E G H632999735ORPHA0124110591603967
HP:0100749HP:0033771Pleuritic chest pain1SCN4A CL E G H6329682ORPHA0124110591603967
HP:0100749HP:0033771Pleuritic chest pain1SCN4A CL E G H632999734ORPHA0124110591603967
HP:0100749HP:0032141Precordial pain1STX16 CL E G H867594089ORPHA018211431603666
HP:0100749HP:0033771Pleuritic chest pain1STX16 CL E G H867594089ORPHA018311431603666
HP:0100749HP:0033771Pleuritic chest pain1STX16 CL E G H867594089ORPHA018211431603666
HP:0100749HP:0032141Precordial pain1STX16 CL E G H867594089ORPHA018311431603666
HP:0100749HP:0032141Precordial pain1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0100749HP:0033771Pleuritic chest pain1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0100749HP:0033771Pleuritic chest pain1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0100749HP:0032141Precordial pain1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0100749HP:0032141Precordial pain1WAS CL E G H7454906ORPHA046312731300392
HP:0100749HP:0032141Precordial pain1WAS CL E G H7454906ORPHA041612731300392
HP:0100749HP:0033771Pleuritic chest pain1WAS CL E G H7454906ORPHA046312731300392
HP:0100749HP:0033771Pleuritic chest pain1WAS CL E G H7454906ORPHA041612731300392
HP:0100749HP:0033771Pleuritic chest pain1WIPF1 CL E G H7456906ORPHA019412736602357
HP:0100749HP:0033771Pleuritic chest pain1WIPF1 CL E G H7456906ORPHA015812736602357
HP:0100749HP:0032141Precordial pain1WIPF1 CL E G H7456906ORPHA019412736602357
HP:0100749HP:0032141Precordial pain1WIPF1 CL E G H7456906ORPHA015812736602357


Genes (67) :ACTA2 APC BTNL2 CALR CTLA4 CTNNB1 DLEC1 DPM3 ELN FBN1 FH FOXE3 GNAS HBB HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IL12B JAK2 KIF1B LOX MAT2A MAX MDH2 MEFV MFAP5 MLX MPL MYH11 MYH7 MYL2 MYLK PLN PRKAR1A PRKG1 PRTN3 PTPN22 RET RNF6 SCN4A SDHA SDHAF2 SDHB SDHC SDHD SH2B3 SMAD3 STX16 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 THPO TMEM127 TMEM43 TNFRSF1A TNNC1 TP53 TRNK TSC1 TSC2 VHL WAS WIPF1 WWOX

Diseases (32) :91387 873 797 3318 900 99977 263494 29072 94089 79443 79444 232 3287 71493 342 134610 229 1880 608758 613874 615 171400 99735 682 99736 99734 604400 32960 613243 1349 538 906
 

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