Human Phenotype Ontology 
Grandparent Node:
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Constitutional symptom (HP:0025142)help
Parent Node:
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Abnormality of the thorax (HP:0000765)help
Parent Node:
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Pain (HP:0012531)help
..Starting node
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Chest pain (HP:0100749)help
Term ID: 100749
Name: Chest pain
Synonym: 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 H5991387ORPHA183130102620
HP:0100749HP:0100749Chest pain0BTNL2 CL E G H56244797ORPHA1111142606000
HP:0100749HP:0100749Chest pain0CALR CL E G H8113318ORPHA151455109091
HP:0100749HP:0100749Chest pain0CTLA4 CL E G H1493900ORPHA1722505123890
HP:0100749HP:0100749Chest pain0DLEC1 CL E G H994099977ORPHA132899604050
HP:0100749HP:0100749Chest pain0DPM3 CL E G H54344263494ORPHA123007605951
HP:0100749HP:0100749Chest pain0ELN CL E G H200691387ORPHA11273327130160
HP:0100749HP:0100749Chest pain0FBN1 CL E G H220091387ORPHA127213603134797
HP:0100749HP:0100749Chest pain0FH CL E G H227129072ORPHA12163700136850
HP:0100749HP:0100749Chest pain0FOXE3 CL E G H230191387ORPHA1313808601094
HP:0100749HP:0100749Chest pain0HBB CL E G H3043232Medullary sponge kidneyORPHA18714827141900
HP:0100749HP:0100749Chest pain0HLA-B CL E G H31063287ORPHA1534932142830
HP:0100749HP:0100749Chest pain0HLA-DPA1 CL E G H3113900ORPHA114938142880
HP:0100749HP:0100749Chest pain0HLA-DPB1 CL E G H3115900ORPHA194940142858
HP:0100749HP:0100749Chest pain0HLA-DRB1 CL E G H3123797ORPHA1264948142857
HP:0100749HP:0100749Chest pain0IL12B CL E G H35933287ORPHA1195970161561
HP:0100749HP:0100749Chest pain0JAK2 CL E G H371771493ORPHA1266192147796
HP:0100749HP:0100749Chest pain0JAK2 CL E G H37173318ORPHA1266192147796
HP:0100749HP:0100749Chest pain0KIF1B CL E G H2309529072ORPHA11316636605995
HP:0100749HP:0100749Chest pain0LOX CL E G H401591387ORPHA196664153455
HP:0100749HP:0100749Chest pain0MAT2A CL E G H414491387ORPHA126904601468
HP:0100749HP:0100749Chest pain0MAX CL E G H414929072ORPHA1326913154950
HP:0100749HP:0100749Chest pain0MDH2 CL E G H419129072ORPHA196971154100
HP:0100749HP:0100749Chest pain0MEFV CL E G H4210342ORPHA11896998608107
HP:0100749HP:0100749Chest pain0MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM11896998608107
HP:0100749HP:0100749Chest pain0MFAP5 CL E G H807691387ORPHA1329673601103
HP:0100749HP:0100749Chest pain0MLX CL E G H69453287ORPHA1111645602976
HP:0100749HP:0100749Chest pain0MPL CL E G H435271493ORPHA1577217159530
HP:0100749HP:0100749Chest pain0MPL CL E G H43523318ORPHA1577217159530
HP:0100749HP:0100749Chest pain0MYH11 CL E G H462991387ORPHA1697569160745
HP:0100749HP:0100749Chest pain0MYH11 CL E G H4629229ORPHA1697569160745
HP:0100749HP:0100749Chest pain0MYH7 CL E G H46251880ORPHA110027577160760
HP:0100749HP:0100749Chest pain0MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM1677583160781
HP:0100749HP:0100749Chest pain0MYLK CL E G H463891387ORPHA1437590600922
HP:0100749HP:0100749Chest pain0PLN CL E G H5350613874Familial hypertrophic cardiomyopathy 18613874C3151265OMIM1319080172405
HP:0100749HP:0100749Chest pain0PRKG1 CL E G H559291387ORPHA169414176894
HP:0100749HP:0100749Chest pain0PRTN3 CL E G H5657900ORPHA19495177020
HP:0100749HP:0100749Chest pain0PTPN22 CL E G H26191900ORPHA1149652600716
HP:0100749HP:0100749Chest pain0RET CL E G H597929072ORPHA14329967164761
HP:0100749HP:0100749Chest pain0RNF6 CL E G H604999977ORPHA1110069604242
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999736ORPHA112910591603967
HP:0100749HP:0100749Chest pain0SDHA CL E G H638929072ORPHA19110680600857
HP:0100749HP:0100749Chest pain0SDHAF2 CL E G H5494929072ORPHA1526034613019
HP:0100749HP:0100749Chest pain0SDHB CL E G H639029072ORPHA127910681185470
HP:0100749HP:0100749Chest pain0SDHC CL E G H639129072ORPHA16210682602413
HP:0100749HP:0100749Chest pain0SDHD CL E G H639229072ORPHA117410683602690
HP:0100749HP:0100749Chest pain0SH2B3 CL E G H100193318ORPHA11629605605093
HP:0100749HP:0100749Chest pain0SMAD3 CL E G H408891387ORPHA1956769603109
HP:0100749HP:0100749Chest pain0TET2 CL E G H547903318ORPHA11225941612839
HP:0100749HP:0100749Chest pain0TGFB2 CL E G H704291387ORPHA14311768190220
HP:0100749HP:0100749Chest pain0TGFB3 CL E G H704391387ORPHA13411769190230
HP:0100749HP:0100749Chest pain0TGFBR1 CL E G H704691387ORPHA17911772190181
HP:0100749HP:0100749Chest pain0TGFBR2 CL E G H704899977ORPHA114811773190182
HP:0100749HP:0100749Chest pain0TGFBR2 CL E G H704891387ORPHA114811773190182
HP:0100749HP:0100749Chest pain0THPO CL E G H706671493ORPHA11511795600044
HP:0100749HP:0100749Chest pain0TMEM127 CL E G H5565429072ORPHA15226038613403
HP:0100749HP:0100749Chest pain0TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM12428472612048
HP:0100749HP:0100749Chest pain0TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM12511943191040
HP:0100749HP:0100749Chest pain0TP53 CL E G H71573318ORPHA154111998191170
HP:0100749HP:0100749Chest pain0TSC1 CL E G H7248538ORPHA140412362605284
HP:0100749HP:0100749Chest pain0TSC2 CL E G H7249538ORPHA1126912363191092
HP:0100749HP:0100749Chest pain0VHL CL E G H742829072ORPHA161712687608537
HP:0100749HP:0100749Chest pain0WWOX CL E G H5174199977ORPHA15012799605131
HP:0100749HP:0100749Chest pain1ACTA2 CL E G H5991387ORPHA183130102620
HP:0100749HP:0100749Chest pain1BTNL2 CL E G H56244797ORPHA1111142606000
HP:0100749HP:0100749Chest pain1CALR CL E G H8113318ORPHA151455109091
HP:0100749HP:0100749Chest pain1CTLA4 CL E G H1493900ORPHA1722505123890
HP:0100749HP:0100749Chest pain1DLEC1 CL E G H994099977ORPHA132899604050
HP:0100749HP:0100749Chest pain1DPM3 CL E G H54344263494ORPHA123007605951
HP:0100749HP:0100749Chest pain1ELN CL E G H200691387ORPHA11273327130160
HP:0100749HP:0100749Chest pain1FBN1 CL E G H220091387ORPHA127213603134797
HP:0100749HP:0100749Chest pain1FH CL E G H227129072ORPHA12163700136850
HP:0100749HP:0100749Chest pain1FOXE3 CL E G H230191387ORPHA1313808601094
HP:0100749HP:0100749Chest pain1HBB CL E G H3043232Medullary sponge kidneyORPHA18714827141900
HP:0100749HP:0100749Chest pain1HLA-B CL E G H31063287ORPHA1534932142830
HP:0100749HP:0100749Chest pain1HLA-DPA1 CL E G H3113900ORPHA114938142880
HP:0100749HP:0100749Chest pain1HLA-DPB1 CL E G H3115900ORPHA194940142858
HP:0100749HP:0100749Chest pain1HLA-DRB1 CL E G H3123797ORPHA1264948142857
HP:0100749HP:0100749Chest pain1IL12B CL E G H35933287ORPHA1195970161561
HP:0100749HP:0100749Chest pain1JAK2 CL E G H371771493ORPHA1266192147796
HP:0100749HP:0100749Chest pain1JAK2 CL E G H37173318ORPHA1266192147796
HP:0100749HP:0100749Chest pain1KIF1B CL E G H2309529072ORPHA11316636605995
HP:0100749HP:0100749Chest pain1LOX CL E G H401591387ORPHA196664153455
HP:0100749HP:0100749Chest pain1MAT2A CL E G H414491387ORPHA126904601468
HP:0100749HP:0100749Chest pain1MAX CL E G H414929072ORPHA1326913154950
HP:0100749HP:0100749Chest pain1MDH2 CL E G H419129072ORPHA196971154100
HP:0100749HP:0100749Chest pain1MEFV CL E G H4210342ORPHA11896998608107
HP:0100749HP:0100749Chest pain1MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM11896998608107
HP:0100749HP:0100749Chest pain1MFAP5 CL E G H807691387ORPHA1329673601103
HP:0100749HP:0100749Chest pain1MLX CL E G H69453287ORPHA1111645602976
HP:0100749HP:0100749Chest pain1MPL CL E G H435271493ORPHA1577217159530
HP:0100749HP:0100749Chest pain1MPL CL E G H43523318ORPHA1577217159530
HP:0100749HP:0100749Chest pain1MYH11 CL E G H462991387ORPHA1697569160745
HP:0100749HP:0100749Chest pain1MYH11 CL E G H4629229ORPHA1697569160745
HP:0100749HP:0100749Chest pain1MYH7 CL E G H46251880ORPHA110027577160760
HP:0100749HP:0100749Chest pain1MYL2 CL E G H4633608758Familial hypertrophic cardiomyopathy 10608758C1834460OMIM1677583160781
HP:0100749HP:0100749Chest pain1MYLK CL E G H463891387ORPHA1437590600922
HP:0100749HP:0100749Chest pain1PLN CL E G H5350613874Familial hypertrophic cardiomyopathy 18613874C3151265OMIM1319080172405
HP:0100749HP:0100749Chest pain1PRKG1 CL E G H559291387ORPHA169414176894
HP:0100749HP:0100749Chest pain1PRTN3 CL E G H5657900ORPHA19495177020
HP:0100749HP:0100749Chest pain1PTPN22 CL E G H26191900ORPHA1149652600716
HP:0100749HP:0100749Chest pain1RET CL E G H597929072ORPHA14329967164761
HP:0100749HP:0100749Chest pain1RNF6 CL E G H604999977ORPHA1110069604242
HP:0100749HP:0100749Chest pain1SCN4A CL E G H632999736ORPHA112910591603967
HP:0100749HP:0100749Chest pain1SDHA CL E G H638929072ORPHA19110680600857
HP:0100749HP:0100749Chest pain1SDHAF2 CL E G H5494929072ORPHA1526034613019
HP:0100749HP:0100749Chest pain1SDHB CL E G H639029072ORPHA127910681185470
HP:0100749HP:0100749Chest pain1SDHC CL E G H639129072ORPHA16210682602413
HP:0100749HP:0100749Chest pain1SDHD CL E G H639229072ORPHA117410683602690
HP:0100749HP:0100749Chest pain1SH2B3 CL E G H100193318ORPHA11629605605093
HP:0100749HP:0100749Chest pain1SMAD3 CL E G H408891387ORPHA1956769603109
HP:0100749HP:0100749Chest pain1TET2 CL E G H547903318ORPHA11225941612839
HP:0100749HP:0100749Chest pain1TGFB2 CL E G H704291387ORPHA14311768190220
HP:0100749HP:0100749Chest pain1TGFB3 CL E G H704391387ORPHA13411769190230
HP:0100749HP:0100749Chest pain1TGFBR1 CL E G H704691387ORPHA17911772190181
HP:0100749HP:0100749Chest pain1TGFBR2 CL E G H704891387ORPHA114811773190182
HP:0100749HP:0100749Chest pain1TGFBR2 CL E G H704899977ORPHA114811773190182
HP:0100749HP:0100749Chest pain1THPO CL E G H706671493ORPHA11511795600044
HP:0100749HP:0100749Chest pain1TMEM127 CL E G H5565429072ORPHA15226038613403
HP:0100749HP:0100749Chest pain1TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM12428472612048
HP:0100749HP:0100749Chest pain1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM12511943191040
HP:0100749HP:0100749Chest pain1TP53 CL E G H71573318ORPHA154111998191170
HP:0100749HP:0100749Chest pain1TSC1 CL E G H7248538ORPHA140412362605284
HP:0100749HP:0100749Chest pain1TSC2 CL E G H7249538ORPHA1126912363191092
HP:0100749HP:0100749Chest pain1VHL CL E G H742829072ORPHA161712687608537
HP:0100749HP:0100749Chest pain1WWOX CL E G H5174199977ORPHA15012799605131
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100749HP:0100749Chest pain0APC CL E G H324873Bethlem myopathyC1834674ORPHA01951583611731
HP:0100749HP:0100749Chest pain0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0542514116806
HP:0100749HP:0100749Chest pain0GNAS CL E G H277879444ORPHA02794392139320
HP:0100749HP:0100749Chest pain0GNAS CL E G H277894089ORPHA02794392139320
HP:0100749HP:0100749Chest pain0GNAS CL E G H277879443ORPHA02794392139320
HP:0100749HP:0100749Chest pain0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0100749HP:0100749Chest pain0PRKAR1A CL E G H5573615Alopecia universalis onychodystrophy vitiligoORPHA01889388188830
HP:0100749HP:0100749Chest pain0RET CL E G H5979171400Multiple endocrine neoplasia, type 2a171400C0025268OMIM04329967164761
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999734ORPHA012910591603967
HP:0100749HP:0100749Chest pain0SCN4A CL E G H6329682ORPHA012910591603967
HP:0100749HP:0100749Chest pain0SCN4A CL E G H632999735ORPHA012910591603967
HP:0100749HP:0100749Chest pain0STX16 CL E G H867594089ORPHA0611431603666
HP:0100749HP:0100749Chest pain0TNFRSF1A CL E G H713232960ORPHA010911916191190
HP:0100749HP:0100749Chest pain0WAS CL E G H7454906ORPHA044112731300392
HP:0100749HP:0100749Chest pain0WIPF1 CL E G H7456906ORPHA0312736602357
HP:0100749HP:0100749Chest pain1APC CL E G H324873Bethlem myopathyC1834674ORPHA01951583611731
HP:0100749HP:0100749Chest pain1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0542514116806
HP:0100749HP:0100749Chest pain1GNAS CL E G H277879444ORPHA02794392139320
HP:0100749HP:0100749Chest pain1GNAS CL E G H277894089ORPHA02794392139320
HP:0100749HP:0100749Chest pain1GNAS CL E G H277879443ORPHA02794392139320
HP:0100749HP:0100749Chest pain1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0100749HP:0100749Chest pain1PRKAR1A CL E G H5573615Alopecia universalis onychodystrophy vitiligoORPHA01889388188830
HP:0100749HP:0100749Chest pain1RET CL E G H5979171400Multiple endocrine neoplasia, type 2a171400C0025268OMIM04329967164761
HP:0100749HP:0100749Chest pain1SCN4A CL E G H632999734ORPHA012910591603967
HP:0100749HP:0100749Chest pain1SCN4A CL E G H6329682ORPHA012910591603967
HP:0100749HP:0100749Chest pain1SCN4A CL E G H632999735ORPHA012910591603967
HP:0100749HP:0100749Chest pain1STX16 CL E G H867594089ORPHA0611431603666
HP:0100749HP:0100749Chest pain1TNFRSF1A CL E G H713232960ORPHA010911916191190
HP:0100749HP:0100749Chest pain1WAS CL E G H7454906ORPHA044112731300392
HP:0100749HP:0100749Chest pain1WIPF1 CL E G H7456906ORPHA0312736602357


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 79444 79443 232 3287 71493 342 134610 229 1880 608758 613874 615 171400 99734 99736 682 99735 604400 32960 613243 1349 538 906
 

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