Human Phenotype Ontology 
Grandparent Node:
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Constitutional symptom (HP:0025142)help
Parent Node:
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Pain (HP:0012531)help
..Starting node
..expand
Myalgia (HP:0003326)help
Term ID: 3326
Name: Myalgia
Synonym: Muscle ache; Muscle pain; Myalgias
Definition: Pain in muscle.
Comments:
Reference: HP:0003326
Genes and Diseases:
 
       Child Nodes:
........expandExercise-induced myalgia (HP:0003738) help

 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
..expandChest pain (HP:0100749) 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
..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:0003326HP:0003326Myalgia0ACAD9 CL E G H2897699901ORPHA16121497611103
HP:0003326HP:0003326Myalgia0ACADL CL E G H3399900ORPHA1288609576
HP:0003326HP:0003326Myalgia0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1551839607575
HP:0003326HP:0003326Myalgia0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM112227337608662
HP:0003326HP:0003326Myalgia0APC CL E G H324873Bethlem myopathyC1834674ORPHA11951583611731
HP:0003326HP:0003326Myalgia0ARVCF CL E G H421567ORPHA12728602269
HP:0003326HP:0003326Myalgia0C4A CL E G H720117ORPHA191323120810
HP:0003326HP:0003326Myalgia0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM14511480114240
HP:0003326HP:0003326Myalgia0CASQ1 CL E G H8442593ORPHA161512114250
HP:0003326HP:0003326Myalgia0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM161512114250
HP:0003326HP:0003326Myalgia0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM1501529601253
HP:0003326HP:0003326Myalgia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM1159688603198
HP:0003326HP:0003326Myalgia0CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM1514153614666
HP:0003326HP:0003326Myalgia0CCR1 CL E G H1230117ORPHA111602601159
HP:0003326HP:0003326Myalgia0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM1113164116955
HP:0003326HP:0003326Myalgia0COL1A1 CL E G H1277287ORPHA19672197120150
HP:0003326HP:0003326Myalgia0COL5A1 CL E G H1289287ORPHA11592209120215
HP:0003326HP:0003326Myalgia0COL5A2 CL E G H1290287ORPHA1392210120190
HP:0003326HP:0003326Myalgia0COMT CL E G H1312567ORPHA1152228116790
HP:0003326HP:0003326Myalgia0CPOX CL E G H137179273ORPHA1732321612732
HP:0003326HP:0003326Myalgia0CPT2 CL E G H1376228302ORPHA11132330600650
HP:0003326HP:0003326Myalgia0CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM11132330600650
HP:0003326HP:0003326Myalgia0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA1542514116806
HP:0003326HP:0003326Myalgia0DMD CL E G H175698895ORPHA139702928300377
HP:0003326HP:0003326Myalgia0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM139702928300377
HP:0003326HP:0003326Myalgia0DNA2 CL E G H1763352470ORPHA182939601810
HP:0003326HP:0003326Myalgia0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM182939601810
HP:0003326HP:0003326Myalgia0DOLK CL E G H2284591131ORPHA11123406610746
HP:0003326HP:0003326Myalgia0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM1321144605942
HP:0003326HP:0003326Myalgia0ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM163354131370
HP:0003326HP:0003326Myalgia0ERAP1 CL E G H51752117ORPHA11118173606832
HP:0003326HP:0003326Myalgia0FAS CL E G H355117ORPHA114211920134637
HP:0003326HP:0003326Myalgia0FKRP CL E G H79147370980ORPHA114117997606596
HP:0003326HP:0003326Myalgia0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114117997606596
HP:0003326HP:0003326Myalgia0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM114117997606596
HP:0003326HP:0003326Myalgia0FKTN CL E G H2218370980ORPHA1593622607440
HP:0003326HP:0003326Myalgia0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM1813775309550
HP:0003326HP:0003326Myalgia0GLA CL E G H2717324Slti Salem syndromeORPHA19664296300644
HP:0003326HP:0003326Myalgia0GP1BB CL E G H2812567ORPHA1534440138720
HP:0003326HP:0003326Myalgia0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1714801600890
HP:0003326HP:0003326Myalgia0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1674803143450
HP:0003326HP:0003326Myalgia0HIRA CL E G H7290567ORPHA154916600237
HP:0003326HP:0003326Myalgia0HLA-B CL E G H31063287ORPHA1534932142830
HP:0003326HP:0003326Myalgia0HLA-B CL E G H3106117ORPHA1534932142830
HP:0003326HP:0003326Myalgia0HMBS CL E G H314579276ORPHA14234982609806
HP:0003326HP:0003326Myalgia0IL10 CL E G H3586117ORPHA1215962124092
HP:0003326HP:0003326Myalgia0IL12A CL E G H3592117ORPHA125969161560
HP:0003326HP:0003326Myalgia0IL12A-AS1 CL E G H101928376117ORPHA1490940
HP:0003326HP:0003326Myalgia0IL12B CL E G H35933287ORPHA1195970161561
HP:0003326HP:0003326Myalgia0IL23R CL E G H149233117ORPHA1919100607562
HP:0003326HP:0003326Myalgia0ISPD CL E G H729920370980ORPHA137276614631
HP:0003326HP:0003326Myalgia0JMJD1C CL E G H221037567ORPHA12912313604503
HP:0003326HP:0003326Myalgia0KLRC4 CL E G H8302117ORPHA16377602893
HP:0003326HP:0003326Myalgia0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA1286518600024
HP:0003326HP:0003326Myalgia0LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM1106535150000
HP:0003326HP:0003326Myalgia0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM15746636150330
HP:0003326HP:0003326Myalgia0LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM12913345605518
HP:0003326HP:0003326Myalgia0LPIN2 CL E G H966377297ORPHA11614450605519
HP:0003326HP:0003326Myalgia0MEFV CL E G H4210342ORPHA11896998608107
HP:0003326HP:0003326Myalgia0MEFV CL E G H4210117ORPHA11896998608107
HP:0003326HP:0003326Myalgia0MLX CL E G H69453287ORPHA1111645602976
HP:0003326HP:0003326Myalgia0MSTO1 CL E G H55154502423ORPHA1829678617619
HP:0003326HP:0003326Myalgia0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM1829678617619
HP:0003326HP:0003326Myalgia0MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0003326HP:0003326Myalgia0MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0003326HP:0003326Myalgia0MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0003326HP:0003326Myalgia0MVK CL E G H4598343ORPHA11837530251170
HP:0003326HP:0003326Myalgia0MYH7 CL E G H462559135ORPHA110027577160760
HP:0003326HP:0003326Myalgia0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM110027577160760
HP:0003326HP:0003326Myalgia0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM11612399604103
HP:0003326HP:0003326Myalgia0NLRC4 CL E G H584841451ORPHA1916412606831
HP:0003326HP:0003326Myalgia0NLRC4 CL E G H5848447045ORPHA1916412606831
HP:0003326HP:0003326Myalgia0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM1916412606831
HP:0003326HP:0003326Myalgia0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM11222938609648
HP:0003326HP:0003326Myalgia0NLRP3 CL E G H1145481451ORPHA114216400606416
HP:0003326HP:0003326Myalgia0NLRP3 CL E G H11454847045ORPHA114216400606416
HP:0003326HP:0003326Myalgia0NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM114216400606416
HP:0003326HP:0003326Myalgia0NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM114216400606416
HP:0003326HP:0003326Myalgia0ORAI1 CL E G H848762593ORPHA11725896610277
HP:0003326HP:0003326Myalgia0OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM1325118615712
HP:0003326HP:0003326Myalgia0PDGFRA CL E G H5156607685Idiopathic hypereosinophilic syndrome607685C0206141OMIM1288803173490
HP:0003326HP:0003326Myalgia0PNPLA2 CL E G H5710498908ORPHA14930802609059
HP:0003326HP:0003326Myalgia0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14930802609059
HP:0003326HP:0003326Myalgia0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM1149180604983
HP:0003326HP:0003326Myalgia0POMT1 CL E G H10585370980ORPHA1969202607423
HP:0003326HP:0003326Myalgia0PRDM5 CL E G H1110790354ORPHA1139349614161
HP:0003326HP:0003326Myalgia0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM11415864610924
HP:0003326HP:0003326Myalgia0RREB1 CL E G H6239567ORPHA11210449602209
HP:0003326HP:0003326Myalgia0SCN4A CL E G H632999736ORPHA112910591603967
HP:0003326HP:0003326Myalgia0SCN4A CL E G H6329684ORPHA112910591603967
HP:0003326HP:0003326Myalgia0SCN4A CL E G H6329682ORPHA112910591603967
HP:0003326HP:0003326Myalgia0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM112910591603967
HP:0003326HP:0003326Myalgia0SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM112910591603967
HP:0003326HP:0003326Myalgia0SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM112910597603415
HP:0003326HP:0003326Myalgia0SEC24C CL E G H9632567ORPHA110705607185
HP:0003326HP:0003326Myalgia0SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM11710990103220
HP:0003326HP:0003326Myalgia0STAT4 CL E G H6775117ORPHA1611365600558
HP:0003326HP:0003326Myalgia0STIM1 CL E G H67862593ORPHA12511386605921
HP:0003326HP:0003326Myalgia0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM12511386605921
HP:0003326HP:0003326Myalgia0TBX1 CL E G H6899567ORPHA18211592602054
HP:0003326HP:0003326Myalgia0TLR4 CL E G H7099117ORPHA11811850603030
HP:0003326HP:0003326Myalgia0TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM1430883615533
HP:0003326HP:0003326Myalgia0TNFRSF1A CL E G H713232960ORPHA110911916191190
HP:0003326HP:0003326Myalgia0TNFRSF1A CL E G H7132142680TNF receptor-associated periodic fever syndrome (TRAPS)142680C1275126OMIM110911916191190
HP:0003326HP:0003326Myalgia0TNXB CL E G H7148230839ORPHA13811976600985
HP:0003326HP:0003326Myalgia0TNXB CL E G H7148285Impossible syndromeORPHA13811976600985
HP:0003326HP:0003326Myalgia0TRAPPC11 CL E G H60684369840ORPHA11725751614138
HP:0003326HP:0003326Myalgia0TRAPPC11 CL E G H60684369847ORPHA11725751614138
HP:0003326HP:0003326Myalgia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11725751614138
HP:0003326HP:0003326Myalgia0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM1831160606075
HP:0003326HP:0003326Myalgia0UBAC2 CL E G H337867117ORPHA11204860
HP:0003326HP:0003326Myalgia0UFD1 CL E G H7353567ORPHA1412520601754
HP:0003326HP:0003326Myalgia0VCP CL E G H7415329478ORPHA16512666601023
HP:0003326HP:0003326Myalgia0ZNF469 CL E G H8462790354ORPHA16923216612078
HP:0003326HP:0003326Myalgia1ACAD9 CL E G H2897699901ORPHA16121497611103
HP:0003326HP:0003326Myalgia1ACADL CL E G H3399900ORPHA1288609576
HP:0003326HP:0003326Myalgia1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1551839607575
HP:0003326HP:0003326Myalgia1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM112227337608662
HP:0003326HP:0003326Myalgia1APC CL E G H324873Bethlem myopathyC1834674ORPHA11951583611731
HP:0003326HP:0003326Myalgia1ARVCF CL E G H421567ORPHA12728602269
HP:0003326HP:0003326Myalgia1C4A CL E G H720117ORPHA191323120810
HP:0003326HP:0003326Myalgia1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM14511480114240
HP:0003326HP:0003326Myalgia1CASQ1 CL E G H8442593ORPHA161512114250
HP:0003326HP:0003326Myalgia1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM161512114250
HP:0003326HP:0003326Myalgia1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM1501529601253
HP:0003326HP:0003326Myalgia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM1159688603198
HP:0003326HP:0003326Myalgia1CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM1514153614666
HP:0003326HP:0003326Myalgia1CCR1 CL E G H1230117ORPHA111602601159
HP:0003326HP:0003326Myalgia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM1113164116955
HP:0003326HP:0003326Myalgia1COL1A1 CL E G H1277287ORPHA19672197120150
HP:0003326HP:0003326Myalgia1COL5A1 CL E G H1289287ORPHA11592209120215
HP:0003326HP:0003326Myalgia1COL5A2 CL E G H1290287ORPHA1392210120190
HP:0003326HP:0003326Myalgia1COMT CL E G H1312567ORPHA1152228116790
HP:0003326HP:0003326Myalgia1CPOX CL E G H137179273ORPHA1732321612732
HP:0003326HP:0003326Myalgia1CPT2 CL E G H1376228302ORPHA11132330600650
HP:0003326HP:0003326Myalgia1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM11132330600650
HP:0003326HP:0003326Myalgia1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA1542514116806
HP:0003326HP:0003326Myalgia1DMD CL E G H175698895ORPHA139702928300377
HP:0003326HP:0003326Myalgia1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM139702928300377
HP:0003326HP:0003326Myalgia1DNA2 CL E G H1763352470ORPHA182939601810
HP:0003326HP:0003326Myalgia1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM182939601810
HP:0003326HP:0003326Myalgia1DOLK CL E G H2284591131ORPHA11123406610746
HP:0003326HP:0003326Myalgia1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM1321144605942
HP:0003326HP:0003326Myalgia1ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM163354131370
HP:0003326HP:0003326Myalgia1ERAP1 CL E G H51752117ORPHA11118173606832
HP:0003326HP:0003326Myalgia1FAS CL E G H355117ORPHA114211920134637
HP:0003326HP:0003326Myalgia1FKRP CL E G H79147370980ORPHA114117997606596
HP:0003326HP:0003326Myalgia1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114117997606596
HP:0003326HP:0003326Myalgia1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM114117997606596
HP:0003326HP:0003326Myalgia1FKTN CL E G H2218370980ORPHA1593622607440
HP:0003326HP:0003326Myalgia1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM1813775309550
HP:0003326HP:0003326Myalgia1GLA CL E G H2717324Slti Salem syndromeORPHA19664296300644
HP:0003326HP:0003326Myalgia1GP1BB CL E G H2812567ORPHA1534440138720
HP:0003326HP:0003326Myalgia1HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1714801600890
HP:0003326HP:0003326Myalgia1HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM1674803143450
HP:0003326HP:0003326Myalgia1HIRA CL E G H7290567ORPHA154916600237
HP:0003326HP:0003326Myalgia1HLA-B CL E G H3106117ORPHA1534932142830
HP:0003326HP:0003326Myalgia1HLA-B CL E G H31063287ORPHA1534932142830
HP:0003326HP:0003326Myalgia1HMBS CL E G H314579276ORPHA14234982609806
HP:0003326HP:0003326Myalgia1IL10 CL E G H3586117ORPHA1215962124092
HP:0003326HP:0003326Myalgia1IL12A CL E G H3592117ORPHA125969161560
HP:0003326HP:0003326Myalgia1IL12A-AS1 CL E G H101928376117ORPHA1490940
HP:0003326HP:0003326Myalgia1IL12B CL E G H35933287ORPHA1195970161561
HP:0003326HP:0003326Myalgia1IL23R CL E G H149233117ORPHA1919100607562
HP:0003326HP:0003326Myalgia1ISPD CL E G H729920370980ORPHA137276614631
HP:0003326HP:0003326Myalgia1JMJD1C CL E G H221037567ORPHA12912313604503
HP:0003326HP:0003326Myalgia1KLRC4 CL E G H8302117ORPHA16377602893
HP:0003326HP:0003326Myalgia1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA1286518600024
HP:0003326HP:0003326Myalgia1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM1106535150000
HP:0003326HP:0003326Myalgia1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM15746636150330
HP:0003326HP:0003326Myalgia1LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM12913345605518
HP:0003326HP:0003326Myalgia1LPIN2 CL E G H966377297ORPHA11614450605519
HP:0003326HP:0003326Myalgia1MEFV CL E G H4210342ORPHA11896998608107
HP:0003326HP:0003326Myalgia1MEFV CL E G H4210117ORPHA11896998608107
HP:0003326HP:0003326Myalgia1MLX CL E G H69453287ORPHA1111645602976
HP:0003326HP:0003326Myalgia1MSTO1 CL E G H55154502423ORPHA1829678617619
HP:0003326HP:0003326Myalgia1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM1829678617619
HP:0003326HP:0003326Myalgia1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0003326HP:0003326Myalgia1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0003326HP:0003326Myalgia1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0003326HP:0003326Myalgia1MVK CL E G H4598343ORPHA11837530251170
HP:0003326HP:0003326Myalgia1MYH7 CL E G H462559135ORPHA110027577160760
HP:0003326HP:0003326Myalgia1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM110027577160760
HP:0003326HP:0003326Myalgia1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM11612399604103
HP:0003326HP:0003326Myalgia1NLRC4 CL E G H584841451ORPHA1916412606831
HP:0003326HP:0003326Myalgia1NLRC4 CL E G H5848447045ORPHA1916412606831
HP:0003326HP:0003326Myalgia1NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM1916412606831
HP:0003326HP:0003326Myalgia1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM11222938609648
HP:0003326HP:0003326Myalgia1NLRP3 CL E G H11454847045ORPHA114216400606416
HP:0003326HP:0003326Myalgia1NLRP3 CL E G H1145481451ORPHA114216400606416
HP:0003326HP:0003326Myalgia1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM114216400606416
HP:0003326HP:0003326Myalgia1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM114216400606416
HP:0003326HP:0003326Myalgia1ORAI1 CL E G H848762593ORPHA11725896610277
HP:0003326HP:0003326Myalgia1OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM1325118615712
HP:0003326HP:0003326Myalgia1PDGFRA CL E G H5156607685Idiopathic hypereosinophilic syndrome607685C0206141OMIM1288803173490
HP:0003326HP:0003326Myalgia1PNPLA2 CL E G H5710498908ORPHA14930802609059
HP:0003326HP:0003326Myalgia1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14930802609059
HP:0003326HP:0003326Myalgia1POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM1149180604983
HP:0003326HP:0003326Myalgia1POMT1 CL E G H10585370980ORPHA1969202607423
HP:0003326HP:0003326Myalgia1PRDM5 CL E G H1110790354ORPHA1139349614161
HP:0003326HP:0003326Myalgia1RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM11415864610924
HP:0003326HP:0003326Myalgia1RREB1 CL E G H6239567ORPHA11210449602209
HP:0003326HP:0003326Myalgia1SCN4A CL E G H6329684ORPHA112910591603967
HP:0003326HP:0003326Myalgia1SCN4A CL E G H6329682ORPHA112910591603967
HP:0003326HP:0003326Myalgia1SCN4A CL E G H632999736ORPHA112910591603967
HP:0003326HP:0003326Myalgia1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM112910591603967
HP:0003326HP:0003326Myalgia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM112910591603967
HP:0003326HP:0003326Myalgia1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM112910597603415
HP:0003326HP:0003326Myalgia1SEC24C CL E G H9632567ORPHA110705607185
HP:0003326HP:0003326Myalgia1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM11710990103220
HP:0003326HP:0003326Myalgia1STAT4 CL E G H6775117ORPHA1611365600558
HP:0003326HP:0003326Myalgia1STIM1 CL E G H67862593ORPHA12511386605921
HP:0003326HP:0003326Myalgia1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM12511386605921
HP:0003326HP:0003326Myalgia1TBX1 CL E G H6899567ORPHA18211592602054
HP:0003326HP:0003326Myalgia1TLR4 CL E G H7099117ORPHA11811850603030
HP:0003326HP:0003326Myalgia1TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM1430883615533
HP:0003326HP:0003326Myalgia1TNFRSF1A CL E G H713232960ORPHA110911916191190
HP:0003326HP:0003326Myalgia1TNFRSF1A CL E G H7132142680TNF receptor-associated periodic fever syndrome (TRAPS)142680C1275126OMIM110911916191190
HP:0003326HP:0003326Myalgia1TNXB CL E G H7148230839ORPHA13811976600985
HP:0003326HP:0003326Myalgia1TNXB CL E G H7148285Impossible syndromeORPHA13811976600985
HP:0003326HP:0003326Myalgia1TRAPPC11 CL E G H60684369840ORPHA11725751614138
HP:0003326HP:0003326Myalgia1TRAPPC11 CL E G H60684369847ORPHA11725751614138
HP:0003326HP:0003326Myalgia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11725751614138
HP:0003326HP:0003326Myalgia1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM1831160606075
HP:0003326HP:0003326Myalgia1UBAC2 CL E G H337867117ORPHA11204860
HP:0003326HP:0003326Myalgia1UFD1 CL E G H7353567ORPHA1412520601754
HP:0003326HP:0003326Myalgia1VCP CL E G H7415329478ORPHA16512666601023
HP:0003326HP:0003326Myalgia1ZNF469 CL E G H8462790354ORPHA16923216612078
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003326HP:0003326Myalgia0CAV3 CL E G H859488650ORPHA0501529601253
HP:0003326HP:0003326Myalgia0CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM03172019118425
HP:0003326HP:0003326Myalgia0CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM03172019118425
HP:0003326HP:0003326Myalgia0CTLA4 CL E G H1493900ORPHA0722505123890
HP:0003326HP:0003326Myalgia0DCC CL E G H1630238722ORPHA0412701120470
HP:0003326HP:0003326Myalgia0DGUOK CL E G H1716329314ORPHA0642858601465
HP:0003326HP:0003326Myalgia0DNAL4 CL E G H10126238722ORPHA012955610565
HP:0003326HP:0003326Myalgia0DNASE1L3 CL E G H177636412ORPHA0102959602244
HP:0003326HP:0003326Myalgia0FMR1 CL E G H233293256ORPHA0813775309550
HP:0003326HP:0003326Myalgia0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA0714801600890
HP:0003326HP:0003326Myalgia0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA0674803143450
HP:0003326HP:0003326Myalgia0HLA-DPA1 CL E G H3113900ORPHA014938142880
HP:0003326HP:0003326Myalgia0HLA-DPB1 CL E G H3115900ORPHA094940142858
HP:0003326HP:0003326Myalgia0HSPG2 CL E G H3339800ORPHA0675273142461
HP:0003326HP:0003326Myalgia0ISPD CL E G H729920352479ORPHA037276614631
HP:0003326HP:0003326Myalgia0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA03428887607844
HP:0003326HP:0003326Myalgia0LMNA CL E G H40002348ORPHA05746636150330
HP:0003326HP:0003326Myalgia0LMNA CL E G H4000280365ORPHA05746636150330
HP:0003326HP:0003326Myalgia0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0003326HP:0003326Myalgia0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0003326HP:0003326Myalgia0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0003326HP:0003326Myalgia0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0003326HP:0003326Myalgia0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0003326HP:0003326Myalgia0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0003326HP:0003326Myalgia0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0003326HP:0003326Myalgia0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0003326HP:0003326Myalgia0MT-TF CL E G H4558550ORPHA07481590070
HP:0003326HP:0003326Myalgia0MT-TH CL E G H4564550ORPHA07487590040
HP:0003326HP:0003326Myalgia0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0003326HP:0003326Myalgia0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0003326HP:0003326Myalgia0MT-TQ CL E G H4572550ORPHA07495590030
HP:0003326HP:0003326Myalgia0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0003326HP:0003326Myalgia0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0003326HP:0003326Myalgia0MT-TW CL E G H4578550ORPHA07501590095
HP:0003326HP:0003326Myalgia0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA014216400606416
HP:0003326HP:0003326Myalgia0NTN1 CL E G H9423238722ORPHA058029601614
HP:0003326HP:0003326Myalgia0POLG CL E G H5428254892ORPHA03009179174763
HP:0003326HP:0003326Myalgia0POLG2 CL E G H11232254892ORPHA0149180604983
HP:0003326HP:0003326Myalgia0PPARG CL E G H546879083ORPHA0549236601487
HP:0003326HP:0003326Myalgia0PRDM5 CL E G H11107614170Brittle cornea syndrome 2614170C3280011OMIM0139349614161
HP:0003326HP:0003326Myalgia0PRTN3 CL E G H5657900ORPHA09495177020
HP:0003326HP:0003326Myalgia0PTPN22 CL E G H26191900ORPHA0149652600716
HP:0003326HP:0003326Myalgia0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0149652600716
HP:0003326HP:0003326Myalgia0RAD51 CL E G H5888238722ORPHA0169817179617
HP:0003326HP:0003326Myalgia0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM0418466604123
HP:0003326HP:0003326Myalgia0RRM2B CL E G H50484254892ORPHA04317296604712
HP:0003326HP:0003326Myalgia0SCN4A CL E G H632999734ORPHA012910591603967
HP:0003326HP:0003326Myalgia0SCN4A CL E G H632999735ORPHA012910591603967
HP:0003326HP:0003326Myalgia0SLC25A4 CL E G H291254892ORPHA01710990103220
HP:0003326HP:0003326Myalgia0TK2 CL E G H7084254875ORPHA06011831188250
HP:0003326HP:0003326Myalgia0TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM01527962612374
HP:0003326HP:0003326Myalgia0TWNK CL E G H56652254892ORPHA0831160606075
HP:0003326HP:0003326Myalgia1CAV3 CL E G H859488650ORPHA0501529601253
HP:0003326HP:0003326Myalgia1CLCN1 CL E G H1180160800Congenital myotonia, autosomal dominant form160800C2936781OMIM03172019118425
HP:0003326HP:0003326Myalgia1CLCN1 CL E G H1180255700Congenital myotonia, autosomal recessive form255700C0751360OMIM03172019118425
HP:0003326HP:0003326Myalgia1CTLA4 CL E G H1493900ORPHA0722505123890
HP:0003326HP:0003326Myalgia1DCC CL E G H1630238722ORPHA0412701120470
HP:0003326HP:0003326Myalgia1DGUOK CL E G H1716329314ORPHA0642858601465
HP:0003326HP:0003326Myalgia1DNAL4 CL E G H10126238722ORPHA012955610565
HP:0003326HP:0003326Myalgia1DNASE1L3 CL E G H177636412ORPHA0102959602244
HP:0003326HP:0003326Myalgia1FMR1 CL E G H233293256ORPHA0813775309550
HP:0003326HP:0003326Myalgia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA0714801600890
HP:0003326HP:0003326Myalgia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA0674803143450
HP:0003326HP:0003326Myalgia1HLA-DPA1 CL E G H3113900ORPHA014938142880
HP:0003326HP:0003326Myalgia1HLA-DPB1 CL E G H3115900ORPHA094940142858
HP:0003326HP:0003326Myalgia1HSPG2 CL E G H3339800ORPHA0675273142461
HP:0003326HP:0003326Myalgia1ISPD CL E G H729920352479ORPHA037276614631
HP:0003326HP:0003326Myalgia1LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA03428887607844
HP:0003326HP:0003326Myalgia1LMNA CL E G H40002348ORPHA05746636150330
HP:0003326HP:0003326Myalgia1LMNA CL E G H4000280365ORPHA05746636150330
HP:0003326HP:0003326Myalgia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0003326HP:0003326Myalgia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0003326HP:0003326Myalgia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0003326HP:0003326Myalgia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0003326HP:0003326Myalgia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0003326HP:0003326Myalgia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0003326HP:0003326Myalgia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0003326HP:0003326Myalgia1MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0003326HP:0003326Myalgia1MT-TF CL E G H4558550ORPHA07481590070
HP:0003326HP:0003326Myalgia1MT-TH CL E G H4564550ORPHA07487590040
HP:0003326HP:0003326Myalgia1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0003326HP:0003326Myalgia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0003326HP:0003326Myalgia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0003326HP:0003326Myalgia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0003326HP:0003326Myalgia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0003326HP:0003326Myalgia1MT-TW CL E G H4578550ORPHA07501590095
HP:0003326HP:0003326Myalgia1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA014216400606416
HP:0003326HP:0003326Myalgia1NTN1 CL E G H9423238722ORPHA058029601614
HP:0003326HP:0003326Myalgia1POLG CL E G H5428254892ORPHA03009179174763
HP:0003326HP:0003326Myalgia1POLG2 CL E G H11232254892ORPHA0149180604983
HP:0003326HP:0003326Myalgia1PPARG CL E G H546879083ORPHA0549236601487
HP:0003326HP:0003326Myalgia1PRDM5 CL E G H11107614170Brittle cornea syndrome 2614170C3280011OMIM0139349614161
HP:0003326HP:0003326Myalgia1PRTN3 CL E G H5657900ORPHA09495177020
HP:0003326HP:0003326Myalgia1PTPN22 CL E G H26191900ORPHA0149652600716
HP:0003326HP:0003326Myalgia1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0149652600716
HP:0003326HP:0003326Myalgia1RAD51 CL E G H5888238722ORPHA0169817179617
HP:0003326HP:0003326Myalgia1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM0418466604123
HP:0003326HP:0003326Myalgia1RRM2B CL E G H50484254892ORPHA04317296604712
HP:0003326HP:0003326Myalgia1SCN4A CL E G H632999735ORPHA012910591603967
HP:0003326HP:0003326Myalgia1SCN4A CL E G H632999734ORPHA012910591603967
HP:0003326HP:0003326Myalgia1SLC25A4 CL E G H291254892ORPHA01710990103220
HP:0003326HP:0003326Myalgia1TK2 CL E G H7084254875ORPHA06011831188250
HP:0003326HP:0003326Myalgia1TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM01527962612374
HP:0003326HP:0003326Myalgia1TWNK CL E G H56652254892ORPHA0831160606075


Genes (144) :ACAD9 ACADL ACADVL ADA2 AGPAT2 AMPD1 AMPD3 ANO5 APC ARVCF BIN1 BSCL2 C4A CAPN3 CASQ1 CAV1 CAV3 CAVIN1 CCDC78 CCR1 CLCN1 CNBP COL1A1 COL5A1 COL5A2 COMT COX1 COX2 COX3 CPOX CPT2 CRPPA CTLA4 CTNNB1 DCC DGUOK DMD DNA2 DNAL4 DNASE1L3 DNM2 DOLK DSE DYSF ENO3 ERAP1 FAS FKRP FKTN FMR1 FOS GLA GP1BB HADHA HADHB HIRA HLA-B HLA-DPA1 HLA-DPB1 HMBS HSPG2 IL10 IL12A IL12A-AS1 IL12B IL23R ISPD JMJD1C KLRC4 LBR LDHA LEMD3 LMNA LPIN1 LPIN2 MATR3 MEFV MLX MSTO1 MT-TE MT-TK MT-TL1 MTMR14 MVK MYF6 MYH7 MYOT ND1 ND4 ND5 ND6 NLRC4 NLRP12 NLRP3 NTN1 ORAI1 OTULIN PDGFRA PGAM2 PHKA1 PNPLA2 POLG POLG2 POMT1 PPARG PRDM5 PRTN3 PTPN22 PYGM RAD51 RBCK1 RNASEH1 RREB1 RRM2B RYR1 SCN4A SCN9A SEC24C SLC25A4 STAT4 STIM1 TBX1 TK2 TLR4 TMEM126B TMEM173 TNFRSF1A TNXB TRAPPC11 TRIM32 TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNW TWNK UBAC2 UFD1 VCP ZNF469

Diseases (120) :99901 99900 615688 611307 873 567 117 618129 2593 616231 488650 123320 613327 614807 160800 255700 602668 287 550 79273 228302 255110 352479 370980 900 238722 329314 98895 300376 352470 615156 36412 91131 615539 612932 606612 607155 93256 300623 324 746 609015 3287 79276 800 779 612933 1306 2348 280365 151660 268200 77297 342 502423 617675 343 59135 160500 609200 47045 1451 616050 611762 575 191900 120100 617099 607685 98908 610717 254892 610131 79083 90354 614170 397 615895 616479 684 99734 99736 682 99735 168300 608390 133020 615418 185070 254875 618250 615934 32960 142680 230839 285 369847 369840 615356 2596 225 1349 609286 329478 201475 528 45 206549 169189 606072 178400 79474 600 261670 300559 232600 329336 255320 160565 254110
 

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