Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal muscle physiology (HP:0011804)help
..Starting node
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Muscle spasm (HP:0003394)help
Term ID: 3394
Name: Muscle spasm
Synonym: Muscle cramps
Definition: Sudden and involuntary contractions of one or more muscles.
Comments:
Reference: HP:0003394
Genes and Diseases:
 
       Child Nodes:
........expandCold-induced muscle cramps (HP:0003449) help
................... HP:0003435 Cold-induced hand cramps
........expandExercise-induced muscle cramps (HP:0003710) help
................... HP:0008991 Exercise-induced leg cramps

 Sister Nodes: 
..expandAbnormal muscle tone (HP:0003808) help
..expandEMG abnormality (HP:0003457) help
..expandFunctional motor deficit (HP:0004302) help
..expandIncreased muscle fatiguability (HP:0003750) help
..expandMuscle hyperirritability (HP:0003559) help
..expandMuscle stiffness (HP:0003552) help
..expandMuscle weakness (HP:0001324) help
..expandMyotonia (HP:0002486) help
..expandTetany (HP:0001281) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003394HP:0003394Muscle spasm0ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18747605452
HP:0003394HP:0003394Muscle spasm0ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18047605452
HP:0003394HP:0003394Muscle spasm0AMPD1 CL E G H27045Congenital varicella syndromeORPHA1228468102770
HP:0003394HP:0003394Muscle spasm0AMPD1 CL E G H27045Congenital varicella syndromeORPHA1136468102770
HP:0003394HP:0003394Muscle spasm0AMPD3 CL E G H27245Congenital varicella syndromeORPHA1131470102772
HP:0003394HP:0003394Muscle spasm0ANG CL E G H283803ORPHA191483105850
HP:0003394HP:0003394Muscle spasm0ANG CL E G H283803ORPHA186483105850
HP:0003394HP:0003394Muscle spasm0ANXA11 CL E G H311803ORPHA1150535602572
HP:0003394HP:0003394Muscle spasm0ANXA11 CL E G H311803ORPHA193535602572
HP:0003394HP:0003394Muscle spasm0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003394HP:0003394Muscle spasm0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003394HP:0003394Muscle spasm0ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1131799182310
HP:0003394HP:0003394Muscle spasm0ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM186799182310
HP:0003394HP:0003394Muscle spasm0ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1567811108730
HP:0003394HP:0003394Muscle spasm0ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1657811108730
HP:0003394HP:0003394Muscle spasm0ATXN2 CL E G H631198756ORPHA15210555601517
HP:0003394HP:0003394Muscle spasm0ATXN2 CL E G H631198756ORPHA15010555601517
HP:0003394HP:0003394Muscle spasm0ATXN2 CL E G H6311803ORPHA15210555601517
HP:0003394HP:0003394Muscle spasm0ATXN2 CL E G H6311803ORPHA15010555601517
HP:0003394HP:0003394Muscle spasm0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0003394HP:0003394Muscle spasm0C9orf72 CL E G H203228803ORPHA116528337614260
HP:0003394HP:0003394Muscle spasm0C9orf72 CL E G H203228803ORPHA116128337614260
HP:0003394HP:0003394Muscle spasm0CACNA1S CL E G H77979102ORPHA113271397114208
HP:0003394HP:0003394Muscle spasm0CACNA1S CL E G H77979102ORPHA111541397114208
HP:0003394HP:0003394Muscle spasm0CASQ1 CL E G H8442593ORPHA1951512114250
HP:0003394HP:0003394Muscle spasm0CASQ1 CL E G H8442593ORPHA1471512114250
HP:0003394HP:0003394Muscle spasm0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003394HP:0003394Muscle spasm0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003394HP:0003394Muscle spasm0CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM115691514601199
HP:0003394HP:0003394Muscle spasm0CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM113181514601199
HP:0003394HP:0003394Muscle spasm0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003394HP:0003394Muscle spasm0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003394HP:0003394Muscle spasm0CCNF CL E G H899803ORPHA11141591600227
HP:0003394HP:0003394Muscle spasm0CCNF CL E G H899803ORPHA11081591600227
HP:0003394HP:0003394Muscle spasm0CFAP410 CL E G H755803ORPHA13351260603191
HP:0003394HP:0003394Muscle spasm0CFAP410 CL E G H755803ORPHA12701260603191
HP:0003394HP:0003394Muscle spasm0CHCHD10 CL E G H400916803ORPHA123015559615903
HP:0003394HP:0003394Muscle spasm0CHCHD10 CL E G H400916803ORPHA120515559615903
HP:0003394HP:0003394Muscle spasm0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0003394HP:0003394Muscle spasm0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0003394HP:0003394Muscle spasm0CHMP2B CL E G H25978803ORPHA113024537609512
HP:0003394HP:0003394Muscle spasm0CHMP2B CL E G H25978803ORPHA111024537609512
HP:0003394HP:0003394Muscle spasm0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0003394HP:0003394Muscle spasm0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0003394HP:0003394Muscle spasm0COL4A1 CL E G H128273229ORPHA18372202120130
HP:0003394HP:0003394Muscle spasm0COL4A1 CL E G H128273229ORPHA110102202120130
HP:0003394HP:0003394Muscle spasm0COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM110102202120130
HP:0003394HP:0003394Muscle spasm0COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM18372202120130
HP:0003394HP:0003394Muscle spasm0CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM16182330600650
HP:0003394HP:0003394Muscle spasm0CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM15052330600650
HP:0003394HP:0003394Muscle spasm0DAO CL E G H1610803ORPHA1492671124050
HP:0003394HP:0003394Muscle spasm0DAO CL E G H1610803ORPHA1472671124050
HP:0003394HP:0003394Muscle spasm0DCTN1 CL E G H1639803ORPHA16932711601143
HP:0003394HP:0003394Muscle spasm0DCTN1 CL E G H1639803ORPHA15652711601143
HP:0003394HP:0003394Muscle spasm0DMD CL E G H175698895ORPHA163952928300377
HP:0003394HP:0003394Muscle spasm0DMD CL E G H175698895ORPHA156012928300377
HP:0003394HP:0003394Muscle spasm0DNA2 CL E G H1763352470ORPHA12902939601810
HP:0003394HP:0003394Muscle spasm0DNA2 CL E G H1763352470ORPHA12232939601810
HP:0003394HP:0003394Muscle spasm0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003394HP:0003394Muscle spasm0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003394HP:0003394Muscle spasm0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0003394HP:0003394Muscle spasm0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0003394HP:0003394Muscle spasm0EPHA4 CL E G H2043803ORPHA1863388602188
HP:0003394HP:0003394Muscle spasm0EPHA4 CL E G H2043803ORPHA1513388602188
HP:0003394HP:0003394Muscle spasm0ERBB4 CL E G H2066803ORPHA12443432600543
HP:0003394HP:0003394Muscle spasm0ERBB4 CL E G H2066803ORPHA11993432600543
HP:0003394HP:0003394Muscle spasm0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0003394HP:0003394Muscle spasm0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0003394HP:0003394Muscle spasm0FIG4 CL E G H9896803ORPHA164916873609390
HP:0003394HP:0003394Muscle spasm0FIG4 CL E G H9896803ORPHA155816873609390
HP:0003394HP:0003394Muscle spasm0FKRP CL E G H79147370980ORPHA167117997606596
HP:0003394HP:0003394Muscle spasm0FKRP CL E G H79147370980ORPHA157217997606596
HP:0003394HP:0003394Muscle spasm0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003394HP:0003394Muscle spasm0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003394HP:0003394Muscle spasm0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003394HP:0003394Muscle spasm0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003394HP:0003394Muscle spasm0FKTN CL E G H2218370980ORPHA16793622607440
HP:0003394HP:0003394Muscle spasm0FKTN CL E G H2218370980ORPHA15993622607440
HP:0003394HP:0003394Muscle spasm0FUS CL E G H2521803ORPHA13394010137070
HP:0003394HP:0003394Muscle spasm0FUS CL E G H2521803ORPHA13234010137070
HP:0003394HP:0003394Muscle spasm0GABRA3 CL E G H255679102ORPHA12144077305660
HP:0003394HP:0003394Muscle spasm0GABRA3 CL E G H255679102ORPHA12184077305660
HP:0003394HP:0003394Muscle spasm0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM13744241138292
HP:0003394HP:0003394Muscle spasm0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14064241138292
HP:0003394HP:0003394Muscle spasm0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0003394HP:0003394Muscle spasm0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0003394HP:0003394Muscle spasm0GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0003394HP:0003394Muscle spasm0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0003394HP:0003394Muscle spasm0GLE1 CL E G H2733803ORPHA13284315603371
HP:0003394HP:0003394Muscle spasm0GLE1 CL E G H2733803ORPHA13014315603371
HP:0003394HP:0003394Muscle spasm0GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11294379139313
HP:0003394HP:0003394Muscle spasm0GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11504379139313
HP:0003394HP:0003394Muscle spasm0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA15274801600890
HP:0003394HP:0003394Muscle spasm0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA14774801600890
HP:0003394HP:0003394Muscle spasm0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12424803143450
HP:0003394HP:0003394Muscle spasm0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12134803143450
HP:0003394HP:0003394Muscle spasm0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0003394HP:0003394Muscle spasm0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0003394HP:0003394Muscle spasm0HNRNPA1 CL E G H3178803ORPHA1605031164017
HP:0003394HP:0003394Muscle spasm0HNRNPA1 CL E G H3178803ORPHA1595031164017
HP:0003394HP:0003394Muscle spasm0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0003394HP:0003394Muscle spasm0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0003394HP:0003394Muscle spasm0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM18229882611911
HP:0003394HP:0003394Muscle spasm0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM110029882611911
HP:0003394HP:0003394Muscle spasm0ISPD CL E G H729920370980ORPHA154937276614631
HP:0003394HP:0003394Muscle spasm0ISPD CL E G H729920370980ORPHA154537276614631
HP:0003394HP:0003394Muscle spasm0KCNA1 CL E G H373637612ORPHA13906218176260
HP:0003394HP:0003394Muscle spasm0KCNA1 CL E G H373637612ORPHA14386218176260
HP:0003394HP:0003394Muscle spasm0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0003394HP:0003394Muscle spasm0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0003394HP:0003394Muscle spasm0KCNJ18 CL E G H10013444479102ORPHA11639080613236
HP:0003394HP:0003394Muscle spasm0KY CL E G H339855496689ORPHA17926576605739
HP:0003394HP:0003394Muscle spasm0KY CL E G H339855496689ORPHA17826576605739
HP:0003394HP:0003394Muscle spasm0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0003394HP:0003394Muscle spasm0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0003394HP:0003394Muscle spasm0LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11326535150000
HP:0003394HP:0003394Muscle spasm0LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11396535150000
HP:0003394HP:0003394Muscle spasm0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003394HP:0003394Muscle spasm0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003394HP:0003394Muscle spasm0MATR3 CL E G H9782803ORPHA12996912164015
HP:0003394HP:0003394Muscle spasm0MATR3 CL E G H9782803ORPHA12496912164015
HP:0003394HP:0003394Muscle spasm0MFN2 CL E G H992799947ORPHA194416877608507
HP:0003394HP:0003394Muscle spasm0MFN2 CL E G H992799947ORPHA182416877608507
HP:0003394HP:0003394Muscle spasm0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0003394HP:0003394Muscle spasm0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0003394HP:0003394Muscle spasm0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003394HP:0003394Muscle spasm0NEFH CL E G H4744803ORPHA13007737162230
HP:0003394HP:0003394Muscle spasm0NEFH CL E G H4744803ORPHA11507737162230
HP:0003394HP:0003394Muscle spasm0NEK1 CL E G H4750803ORPHA14737744604588
HP:0003394HP:0003394Muscle spasm0NEK1 CL E G H4750803ORPHA14187744604588
HP:0003394HP:0003394Muscle spasm0OPA3 CL E G H8020767036ORPHA14018142606580
HP:0003394HP:0003394Muscle spasm0OPA3 CL E G H8020767036ORPHA13728142606580
HP:0003394HP:0003394Muscle spasm0OPTN CL E G H10133803ORPHA128817142602432
HP:0003394HP:0003394Muscle spasm0OPTN CL E G H10133803ORPHA124017142602432
HP:0003394HP:0003394Muscle spasm0ORAI1 CL E G H848762593ORPHA116225896610277
HP:0003394HP:0003394Muscle spasm0ORAI1 CL E G H848762593ORPHA122825896610277
HP:0003394HP:0003394Muscle spasm0PFN1 CL E G H5216803ORPHA1768881176610
HP:0003394HP:0003394Muscle spasm0PFN1 CL E G H5216803ORPHA1708881176610
HP:0003394HP:0003394Muscle spasm0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA12818923606879
HP:0003394HP:0003394Muscle spasm0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA14078923606879
HP:0003394HP:0003394Muscle spasm0POMT1 CL E G H10585370980ORPHA16869202607423
HP:0003394HP:0003394Muscle spasm0POMT1 CL E G H10585370980ORPHA16099202607423
HP:0003394HP:0003394Muscle spasm0PON1 CL E G H5444803ORPHA1569204168820
HP:0003394HP:0003394Muscle spasm0PON2 CL E G H5445803ORPHA1489205602447
HP:0003394HP:0003394Muscle spasm0PON3 CL E G H5446803ORPHA1459206602720
HP:0003394HP:0003394Muscle spasm0PPARGC1A CL E G H10891803ORPHA1479237604517
HP:0003394HP:0003394Muscle spasm0PRPH CL E G H5630803ORPHA1539461170710
HP:0003394HP:0003394Muscle spasm0PRPH CL E G H5630803ORPHA1529461170710
HP:0003394HP:0003394Muscle spasm0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA139919129610936
HP:0003394HP:0003394Muscle spasm0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA135619129610936
HP:0003394HP:0003394Muscle spasm0RTN2 CL E G H6253100993ORPHA117210468603183
HP:0003394HP:0003394Muscle spasm0RTN2 CL E G H6253100993ORPHA115210468603183
HP:0003394HP:0003394Muscle spasm0SCN4A CL E G H632999735ORPHA1124110591603967
HP:0003394HP:0003394Muscle spasm0SCN4A CL E G H632999735ORPHA1108110591603967
HP:0003394HP:0003394Muscle spasm0SCN4A CL E G H632999734ORPHA1124110591603967
HP:0003394HP:0003394Muscle spasm0SCN4A CL E G H632999736ORPHA1124110591603967
HP:0003394HP:0003394Muscle spasm0SCN4A CL E G H632999734ORPHA1108110591603967
HP:0003394HP:0003394Muscle spasm0SCN4A CL E G H632999736ORPHA1108110591603967
HP:0003394HP:0003394Muscle spasm0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM128110910600839
HP:0003394HP:0003394Muscle spasm0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM132710910600839
HP:0003394HP:0003394Muscle spasm0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM186810912600968
HP:0003394HP:0003394Muscle spasm0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM178510912600968
HP:0003394HP:0003394Muscle spasm0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120311117600354
HP:0003394HP:0003394Muscle spasm0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120111117600354
HP:0003394HP:0003394Muscle spasm0SOD1 CL E G H6647803ORPHA123211179147450
HP:0003394HP:0003394Muscle spasm0SOD1 CL E G H6647803ORPHA120811179147450
HP:0003394HP:0003394Muscle spasm0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM123211179147450
HP:0003394HP:0003394Muscle spasm0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM120811179147450
HP:0003394HP:0003394Muscle spasm0SQSTM1 CL E G H8878803ORPHA147311280601530
HP:0003394HP:0003394Muscle spasm0SQSTM1 CL E G H8878803ORPHA138311280601530
HP:0003394HP:0003394Muscle spasm0STIM1 CL E G H67862593ORPHA145211386605921
HP:0003394HP:0003394Muscle spasm0STIM1 CL E G H67862593ORPHA137911386605921
HP:0003394HP:0003394Muscle spasm0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM145211386605921
HP:0003394HP:0003394Muscle spasm0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM137911386605921
HP:0003394HP:0003394Muscle spasm0TAF15 CL E G H8148803ORPHA18511547601574
HP:0003394HP:0003394Muscle spasm0TAF15 CL E G H8148803ORPHA18611547601574
HP:0003394HP:0003394Muscle spasm0TARDBP CL E G H23435803ORPHA122511571605078
HP:0003394HP:0003394Muscle spasm0TARDBP CL E G H23435803ORPHA121411571605078
HP:0003394HP:0003394Muscle spasm0TBK1 CL E G H29110803ORPHA120611584604834
HP:0003394HP:0003394Muscle spasm0TBK1 CL E G H29110803ORPHA126911584604834
HP:0003394HP:0003394Muscle spasm0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM123711758602498
HP:0003394HP:0003394Muscle spasm0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM126311758602498
HP:0003394HP:0003394Muscle spasm0TRAPPC11 CL E G H60684369840ORPHA167325751614138
HP:0003394HP:0003394Muscle spasm0TRAPPC11 CL E G H60684369840ORPHA157325751614138
HP:0003394HP:0003394Muscle spasm0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0003394HP:0003394Muscle spasm0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0003394HP:0003394Muscle spasm0TREM2 CL E G H54209803ORPHA19417761605086
HP:0003394HP:0003394Muscle spasm0TREM2 CL E G H54209803ORPHA16417761605086
HP:0003394HP:0003394Muscle spasm0TRPM6 CL E G H140803602014Hypomagnesemia 1, intestinal602014C1865974OMIM136617995607009
HP:0003394HP:0003394Muscle spasm0TRPM6 CL E G H140803602014Hypomagnesemia 1, intestinal602014C1865974OMIM134117995607009
HP:0003394HP:0003394Muscle spasm0UBQLN2 CL E G H29978803ORPHA120012509300264
HP:0003394HP:0003394Muscle spasm0UBQLN2 CL E G H29978803ORPHA121712509300264
HP:0003394HP:0003394Muscle spasm0UNC13A CL E G H23025803ORPHA16723150609894
HP:0003394HP:0003394Muscle spasm0UNC13A CL E G H23025803ORPHA16523150609894
HP:0003394HP:0003394Muscle spasm0VAPB CL E G H9217803ORPHA127512649605704
HP:0003394HP:0003394Muscle spasm0VAPB CL E G H9217803ORPHA129012649605704
HP:0003394HP:0003394Muscle spasm0VCP CL E G H7415803ORPHA139512666601023
HP:0003394HP:0003394Muscle spasm0VCP CL E G H7415329478ORPHA139512666601023
HP:0003394HP:0003394Muscle spasm0VCP CL E G H7415803ORPHA135612666601023
HP:0003394HP:0003394Muscle spasm0VCP CL E G H7415329478ORPHA135612666601023
HP:0003394HP:0003394Muscle spasm0WASHC5 CL E G H9897100989ORPHA149328984610657
HP:0003394HP:0003394Muscle spasm0WASHC5 CL E G H9897100989ORPHA145728984610657
HP:0003394HP:0031989Perioral spasm1ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18047605452
HP:0003394HP:0003449Cold-induced muscle cramps1ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18747605452
HP:0003394HP:0003710Exercise-induced muscle cramps1ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18747605452
HP:0003394HP:0011964Intermittent painful muscle spasms1ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18747605452
HP:0003394HP:0003710Exercise-induced muscle cramps1ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18047605452
HP:0003394HP:0011964Intermittent painful muscle spasms1ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18047605452
HP:0003394HP:0003449Cold-induced muscle cramps1ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18047605452
HP:0003394HP:0031989Perioral spasm1ABCB6 CL E G H10058609153Pseudohyperkalemia, familial, 2, due to red cell leak609153C1836705OMIM18747605452
HP:0003394HP:0031989Perioral spasm1AMPD1 CL E G H27045Congenital varicella syndromeORPHA1228468102770
HP:0003394HP:0031989Perioral spasm1AMPD1 CL E G H27045Congenital varicella syndromeORPHA1136468102770
HP:0003394HP:0011964Intermittent painful muscle spasms1AMPD1 CL E G H27045Congenital varicella syndromeORPHA1228468102770
HP:0003394HP:0003449Cold-induced muscle cramps1AMPD1 CL E G H27045Congenital varicella syndromeORPHA1228468102770
HP:0003394HP:0003710Exercise-induced muscle cramps1AMPD1 CL E G H27045Congenital varicella syndromeORPHA1228468102770
HP:0003394HP:0003449Cold-induced muscle cramps1AMPD1 CL E G H27045Congenital varicella syndromeORPHA1136468102770
HP:0003394HP:0003710Exercise-induced muscle cramps1AMPD1 CL E G H27045Congenital varicella syndromeORPHA1136468102770
HP:0003394HP:0011964Intermittent painful muscle spasms1AMPD1 CL E G H27045Congenital varicella syndromeORPHA1136468102770
HP:0003394HP:0031989Perioral spasm1AMPD3 CL E G H27245Congenital varicella syndromeORPHA1131470102772
HP:0003394HP:0003449Cold-induced muscle cramps1AMPD3 CL E G H27245Congenital varicella syndromeORPHA1131470102772
HP:0003394HP:0011964Intermittent painful muscle spasms1AMPD3 CL E G H27245Congenital varicella syndromeORPHA1131470102772
HP:0003394HP:0003710Exercise-induced muscle cramps1AMPD3 CL E G H27245Congenital varicella syndromeORPHA1131470102772
HP:0003394HP:0031989Perioral spasm1ANG CL E G H283803ORPHA191483105850
HP:0003394HP:0031989Perioral spasm1ANG CL E G H283803ORPHA186483105850
HP:0003394HP:0011964Intermittent painful muscle spasms1ANG CL E G H283803ORPHA191483105850
HP:0003394HP:0003449Cold-induced muscle cramps1ANG CL E G H283803ORPHA191483105850
HP:0003394HP:0003710Exercise-induced muscle cramps1ANG CL E G H283803ORPHA191483105850
HP:0003394HP:0003449Cold-induced muscle cramps1ANG CL E G H283803ORPHA186483105850
HP:0003394HP:0003710Exercise-induced muscle cramps1ANG CL E G H283803ORPHA186483105850
HP:0003394HP:0011964Intermittent painful muscle spasms1ANG CL E G H283803ORPHA186483105850
HP:0003394HP:0003449Cold-induced muscle cramps1ANXA11 CL E G H311803ORPHA1150535602572
HP:0003394HP:0003710Exercise-induced muscle cramps1ANXA11 CL E G H311803ORPHA1150535602572
HP:0003394HP:0011964Intermittent painful muscle spasms1ANXA11 CL E G H311803ORPHA1150535602572
HP:0003394HP:0003449Cold-induced muscle cramps1ANXA11 CL E G H311803ORPHA193535602572
HP:0003394HP:0003710Exercise-induced muscle cramps1ANXA11 CL E G H311803ORPHA193535602572
HP:0003394HP:0011964Intermittent painful muscle spasms1ANXA11 CL E G H311803ORPHA193535602572
HP:0003394HP:0031989Perioral spasm1ANXA11 CL E G H311803ORPHA1150535602572
HP:0003394HP:0031989Perioral spasm1ANXA11 CL E G H311803ORPHA193535602572
HP:0003394HP:0031989Perioral spasm1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003394HP:0003449Cold-induced muscle cramps1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003394HP:0003710Exercise-induced muscle cramps1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003394HP:0011964Intermittent painful muscle spasms1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003394HP:0003710Exercise-induced muscle cramps1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003394HP:0011964Intermittent painful muscle spasms1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003394HP:0003449Cold-induced muscle cramps1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003394HP:0031989Perioral spasm1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003394HP:0031989Perioral spasm1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1131799182310
HP:0003394HP:0031989Perioral spasm1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM186799182310
HP:0003394HP:0003449Cold-induced muscle cramps1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1131799182310
HP:0003394HP:0003710Exercise-induced muscle cramps1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1131799182310
HP:0003394HP:0011964Intermittent painful muscle spasms1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1131799182310
HP:0003394HP:0003449Cold-induced muscle cramps1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM186799182310
HP:0003394HP:0003710Exercise-induced muscle cramps1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM186799182310
HP:0003394HP:0011964Intermittent painful muscle spasms1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM186799182310
HP:0003394HP:0011964Intermittent painful muscle spasms1ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1567811108730
HP:0003394HP:0003449Cold-induced muscle cramps1ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1567811108730
HP:0003394HP:0003710Exercise-induced muscle cramps1ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1567811108730
HP:0003394HP:0031989Perioral spasm1ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1657811108730
HP:0003394HP:0031989Perioral spasm1ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1567811108730
HP:0003394HP:0011964Intermittent painful muscle spasms1ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1657811108730
HP:0003394HP:0003449Cold-induced muscle cramps1ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1657811108730
HP:0003394HP:0003710Exercise-induced muscle cramps1ATP2A1 CL E G H487601003Brody myopathy601003C1832918OMIM1657811108730
HP:0003394HP:0011964Intermittent painful muscle spasms1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0003394HP:0003449Cold-induced muscle cramps1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0003394HP:0003710Exercise-induced muscle cramps1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0003394HP:0031989Perioral spasm1ATXN2 CL E G H6311803ORPHA15210555601517
HP:0003394HP:0003449Cold-induced muscle cramps1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0003394HP:0003710Exercise-induced muscle cramps1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0003394HP:0011964Intermittent painful muscle spasms1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0003394HP:0031989Perioral spasm1ATXN2 CL E G H6311803ORPHA15010555601517
HP:0003394HP:0031989Perioral spasm1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0003394HP:0003449Cold-induced muscle cramps1ATXN2 CL E G H6311803ORPHA15210555601517
HP:0003394HP:0003710Exercise-induced muscle cramps1ATXN2 CL E G H6311803ORPHA15210555601517
HP:0003394HP:0011964Intermittent painful muscle spasms1ATXN2 CL E G H6311803ORPHA15210555601517
HP:0003394HP:0031989Perioral spasm1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0003394HP:0003449Cold-induced muscle cramps1ATXN2 CL E G H6311803ORPHA15010555601517
HP:0003394HP:0003710Exercise-induced muscle cramps1ATXN2 CL E G H6311803ORPHA15010555601517
HP:0003394HP:0011964Intermittent painful muscle spasms1ATXN2 CL E G H6311803ORPHA15010555601517
HP:0003394HP:0031989Perioral spasm1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0003394HP:0003449Cold-induced muscle cramps1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0003394HP:0011964Intermittent painful muscle spasms1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0003394HP:0003710Exercise-induced muscle cramps1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0003394HP:0003710Exercise-induced muscle cramps1C9orf72 CL E G H203228803ORPHA116528337614260
HP:0003394HP:0011964Intermittent painful muscle spasms1C9orf72 CL E G H203228803ORPHA116528337614260
HP:0003394HP:0003449Cold-induced muscle cramps1C9orf72 CL E G H203228803ORPHA116528337614260
HP:0003394HP:0003710Exercise-induced muscle cramps1C9orf72 CL E G H203228803ORPHA116128337614260
HP:0003394HP:0011964Intermittent painful muscle spasms1C9orf72 CL E G H203228803ORPHA116128337614260
HP:0003394HP:0003449Cold-induced muscle cramps1C9orf72 CL E G H203228803ORPHA116128337614260
HP:0003394HP:0031989Perioral spasm1C9orf72 CL E G H203228803ORPHA116528337614260
HP:0003394HP:0031989Perioral spasm1C9orf72 CL E G H203228803ORPHA116128337614260
HP:0003394HP:0031989Perioral spasm1CACNA1S CL E G H77979102ORPHA111541397114208
HP:0003394HP:0003710Exercise-induced muscle cramps1CACNA1S CL E G H77979102ORPHA113271397114208
HP:0003394HP:0011964Intermittent painful muscle spasms1CACNA1S CL E G H77979102ORPHA113271397114208
HP:0003394HP:0003449Cold-induced muscle cramps1CACNA1S CL E G H77979102ORPHA113271397114208
HP:0003394HP:0003710Exercise-induced muscle cramps1CACNA1S CL E G H77979102ORPHA111541397114208
HP:0003394HP:0011964Intermittent painful muscle spasms1CACNA1S CL E G H77979102ORPHA111541397114208
HP:0003394HP:0003449Cold-induced muscle cramps1CACNA1S CL E G H77979102ORPHA111541397114208
HP:0003394HP:0031989Perioral spasm1CACNA1S CL E G H77979102ORPHA113271397114208
HP:0003394HP:0031989Perioral spasm1CASQ1 CL E G H8442593ORPHA1471512114250
HP:0003394HP:0003710Exercise-induced muscle cramps1CASQ1 CL E G H8442593ORPHA1951512114250
HP:0003394HP:0011964Intermittent painful muscle spasms1CASQ1 CL E G H8442593ORPHA1951512114250
HP:0003394HP:0003449Cold-induced muscle cramps1CASQ1 CL E G H8442593ORPHA1951512114250
HP:0003394HP:0003710Exercise-induced muscle cramps1CASQ1 CL E G H8442593ORPHA1471512114250
HP:0003394HP:0011964Intermittent painful muscle spasms1CASQ1 CL E G H8442593ORPHA1471512114250
HP:0003394HP:0003449Cold-induced muscle cramps1CASQ1 CL E G H8442593ORPHA1471512114250
HP:0003394HP:0031989Perioral spasm1CASQ1 CL E G H8442593ORPHA1951512114250
HP:0003394HP:0011964Intermittent painful muscle spasms1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003394HP:0003449Cold-induced muscle cramps1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003394HP:0003710Exercise-induced muscle cramps1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003394HP:0031989Perioral spasm1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003394HP:0031989Perioral spasm1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003394HP:0003710Exercise-induced muscle cramps1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003394HP:0011964Intermittent painful muscle spasms1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003394HP:0003449Cold-induced muscle cramps1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003394HP:0031989Perioral spasm1CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM113181514601199
HP:0003394HP:0003449Cold-induced muscle cramps1CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM115691514601199
HP:0003394HP:0003710Exercise-induced muscle cramps1CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM115691514601199
HP:0003394HP:0011964Intermittent painful muscle spasms1CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM115691514601199
HP:0003394HP:0003449Cold-induced muscle cramps1CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM113181514601199
HP:0003394HP:0003710Exercise-induced muscle cramps1CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM113181514601199
HP:0003394HP:0011964Intermittent painful muscle spasms1CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM113181514601199
HP:0003394HP:0031989Perioral spasm1CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM115691514601199
HP:0003394HP:0031989Perioral spasm1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003394HP:0003449Cold-induced muscle cramps1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003394HP:0003710Exercise-induced muscle cramps1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003394HP:0011964Intermittent painful muscle spasms1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003394HP:0003449Cold-induced muscle cramps1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003394HP:0003710Exercise-induced muscle cramps1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003394HP:0011964Intermittent painful muscle spasms1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003394HP:0031989Perioral spasm1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003394HP:0031989Perioral spasm1CCNF CL E G H899803ORPHA11141591600227
HP:0003394HP:0031989Perioral spasm1CCNF CL E G H899803ORPHA11081591600227
HP:0003394HP:0011964Intermittent painful muscle spasms1CCNF CL E G H899803ORPHA11141591600227
HP:0003394HP:0003449Cold-induced muscle cramps1CCNF CL E G H899803ORPHA11141591600227
HP:0003394HP:0003710Exercise-induced muscle cramps1CCNF CL E G H899803ORPHA11141591600227
HP:0003394HP:0003449Cold-induced muscle cramps1CCNF CL E G H899803ORPHA11081591600227
HP:0003394HP:0003710Exercise-induced muscle cramps1CCNF CL E G H899803ORPHA11081591600227
HP:0003394HP:0011964Intermittent painful muscle spasms1CCNF CL E G H899803ORPHA11081591600227
HP:0003394HP:0003449Cold-induced muscle cramps1CFAP410 CL E G H755803ORPHA13351260603191
HP:0003394HP:0003710Exercise-induced muscle cramps1CFAP410 CL E G H755803ORPHA13351260603191
HP:0003394HP:0011964Intermittent painful muscle spasms1CFAP410 CL E G H755803ORPHA13351260603191
HP:0003394HP:0003449Cold-induced muscle cramps1CFAP410 CL E G H755803ORPHA12701260603191
HP:0003394HP:0003710Exercise-induced muscle cramps1CFAP410 CL E G H755803ORPHA12701260603191
HP:0003394HP:0011964Intermittent painful muscle spasms1CFAP410 CL E G H755803ORPHA12701260603191
HP:0003394HP:0031989Perioral spasm1CFAP410 CL E G H755803ORPHA13351260603191
HP:0003394HP:0031989Perioral spasm1CFAP410 CL E G H755803ORPHA12701260603191
HP:0003394HP:0031989Perioral spasm1CHCHD10 CL E G H400916803ORPHA123015559615903
HP:0003394HP:0031989Perioral spasm1CHCHD10 CL E G H400916803ORPHA120515559615903
HP:0003394HP:0003449Cold-induced muscle cramps1CHCHD10 CL E G H400916803ORPHA123015559615903
HP:0003394HP:0003710Exercise-induced muscle cramps1CHCHD10 CL E G H400916803ORPHA123015559615903
HP:0003394HP:0011964Intermittent painful muscle spasms1CHCHD10 CL E G H400916803ORPHA123015559615903
HP:0003394HP:0003449Cold-induced muscle cramps1CHCHD10 CL E G H400916803ORPHA120515559615903
HP:0003394HP:0003710Exercise-induced muscle cramps1CHCHD10 CL E G H400916803ORPHA120515559615903
HP:0003394HP:0011964Intermittent painful muscle spasms1CHCHD10 CL E G H400916803ORPHA120515559615903
HP:0003394HP:0031989Perioral spasm1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0003394HP:0003449Cold-induced muscle cramps1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0003394HP:0003710Exercise-induced muscle cramps1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0003394HP:0011964Intermittent painful muscle spasms1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0003394HP:0003710Exercise-induced muscle cramps1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0003394HP:0011964Intermittent painful muscle spasms1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0003394HP:0003449Cold-induced muscle cramps1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0003394HP:0031989Perioral spasm1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0003394HP:0003710Exercise-induced muscle cramps1CHMP2B CL E G H25978803ORPHA113024537609512
HP:0003394HP:0011964Intermittent painful muscle spasms1CHMP2B CL E G H25978803ORPHA113024537609512
HP:0003394HP:0003449Cold-induced muscle cramps1CHMP2B CL E G H25978803ORPHA113024537609512
HP:0003394HP:0003710Exercise-induced muscle cramps1CHMP2B CL E G H25978803ORPHA111024537609512
HP:0003394HP:0011964Intermittent painful muscle spasms1CHMP2B CL E G H25978803ORPHA111024537609512
HP:0003394HP:0003449Cold-induced muscle cramps1CHMP2B CL E G H25978803ORPHA111024537609512
HP:0003394HP:0031989Perioral spasm1CHMP2B CL E G H25978803ORPHA113024537609512
HP:0003394HP:0031989Perioral spasm1CHMP2B CL E G H25978803ORPHA111024537609512
HP:0003394HP:0031989Perioral spasm1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0003394HP:0003449Cold-induced muscle cramps1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0003394HP:0003710Exercise-induced muscle cramps1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0003394HP:0011964Intermittent painful muscle spasms1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0003394HP:0003449Cold-induced muscle cramps1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0003394HP:0003710Exercise-induced muscle cramps1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0003394HP:0011964Intermittent painful muscle spasms1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0003394HP:0031989Perioral spasm1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0003394HP:0003449Cold-induced muscle cramps1COL4A1 CL E G H128273229ORPHA18372202120130
HP:0003394HP:0003710Exercise-induced muscle cramps1COL4A1 CL E G H128273229ORPHA18372202120130
HP:0003394HP:0011964Intermittent painful muscle spasms1COL4A1 CL E G H128273229ORPHA18372202120130
HP:0003394HP:0031989Perioral spasm1COL4A1 CL E G H128273229ORPHA110102202120130
HP:0003394HP:0031989Perioral spasm1COL4A1 CL E G H128273229ORPHA18372202120130
HP:0003394HP:0003449Cold-induced muscle cramps1COL4A1 CL E G H128273229ORPHA110102202120130
HP:0003394HP:0003710Exercise-induced muscle cramps1COL4A1 CL E G H128273229ORPHA110102202120130
HP:0003394HP:0011964Intermittent painful muscle spasms1COL4A1 CL E G H128273229ORPHA110102202120130
HP:0003394HP:0031989Perioral spasm1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM18372202120130
HP:0003394HP:0003449Cold-induced muscle cramps1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM110102202120130
HP:0003394HP:0003710Exercise-induced muscle cramps1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM110102202120130
HP:0003394HP:0011964Intermittent painful muscle spasms1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM110102202120130
HP:0003394HP:0003449Cold-induced muscle cramps1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM18372202120130
HP:0003394HP:0003710Exercise-induced muscle cramps1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM18372202120130
HP:0003394HP:0011964Intermittent painful muscle spasms1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM18372202120130
HP:0003394HP:0031989Perioral spasm1COL4A1 CL E G H1282611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps611773C2673195OMIM110102202120130
HP:0003394HP:0031989Perioral spasm1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM15052330600650
HP:0003394HP:0003449Cold-induced muscle cramps1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM16182330600650
HP:0003394HP:0003710Exercise-induced muscle cramps1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM16182330600650
HP:0003394HP:0011964Intermittent painful muscle spasms1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM16182330600650
HP:0003394HP:0003710Exercise-induced muscle cramps1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM15052330600650
HP:0003394HP:0011964Intermittent painful muscle spasms1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM15052330600650
HP:0003394HP:0003449Cold-induced muscle cramps1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM15052330600650
HP:0003394HP:0031989Perioral spasm1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM16182330600650
HP:0003394HP:0031989Perioral spasm1DAO CL E G H1610803ORPHA1492671124050
HP:0003394HP:0031989Perioral spasm1DAO CL E G H1610803ORPHA1472671124050
HP:0003394HP:0011964Intermittent painful muscle spasms1DAO CL E G H1610803ORPHA1492671124050
HP:0003394HP:0003449Cold-induced muscle cramps1DAO CL E G H1610803ORPHA1492671124050
HP:0003394HP:0003710Exercise-induced muscle cramps1DAO CL E G H1610803ORPHA1492671124050
HP:0003394HP:0003449Cold-induced muscle cramps1DAO CL E G H1610803ORPHA1472671124050
HP:0003394HP:0003710Exercise-induced muscle cramps1DAO CL E G H1610803ORPHA1472671124050
HP:0003394HP:0011964Intermittent painful muscle spasms1DAO CL E G H1610803ORPHA1472671124050
HP:0003394HP:0003449Cold-induced muscle cramps1DCTN1 CL E G H1639803ORPHA16932711601143
HP:0003394HP:0003710Exercise-induced muscle cramps1DCTN1 CL E G H1639803ORPHA16932711601143
HP:0003394HP:0011964Intermittent painful muscle spasms1DCTN1 CL E G H1639803ORPHA16932711601143
HP:0003394HP:0003449Cold-induced muscle cramps1DCTN1 CL E G H1639803ORPHA15652711601143
HP:0003394HP:0003710Exercise-induced muscle cramps1DCTN1 CL E G H1639803ORPHA15652711601143
HP:0003394HP:0011964Intermittent painful muscle spasms1DCTN1 CL E G H1639803ORPHA15652711601143
HP:0003394HP:0031989Perioral spasm1DCTN1 CL E G H1639803ORPHA16932711601143
HP:0003394HP:0031989Perioral spasm1DCTN1 CL E G H1639803ORPHA15652711601143
HP:0003394HP:0031989Perioral spasm1DMD CL E G H175698895ORPHA163952928300377
HP:0003394HP:0031989Perioral spasm1DMD CL E G H175698895ORPHA156012928300377
HP:0003394HP:0003449Cold-induced muscle cramps1DMD CL E G H175698895ORPHA163952928300377
HP:0003394HP:0003710Exercise-induced muscle cramps1DMD CL E G H175698895ORPHA163952928300377
HP:0003394HP:0011964Intermittent painful muscle spasms1DMD CL E G H175698895ORPHA163952928300377
HP:0003394HP:0003449Cold-induced muscle cramps1DMD CL E G H175698895ORPHA156012928300377
HP:0003394HP:0003710Exercise-induced muscle cramps1DMD CL E G H175698895ORPHA156012928300377
HP:0003394HP:0011964Intermittent painful muscle spasms1DMD CL E G H175698895ORPHA156012928300377
HP:0003394HP:0011964Intermittent painful muscle spasms1DNA2 CL E G H1763352470ORPHA12902939601810
HP:0003394HP:0003449Cold-induced muscle cramps1DNA2 CL E G H1763352470ORPHA12902939601810
HP:0003394HP:0003710Exercise-induced muscle cramps1DNA2 CL E G H1763352470ORPHA12902939601810
HP:0003394HP:0011964Intermittent painful muscle spasms1DNA2 CL E G H1763352470ORPHA12232939601810
HP:0003394HP:0003449Cold-induced muscle cramps1DNA2 CL E G H1763352470ORPHA12232939601810
HP:0003394HP:0003710Exercise-induced muscle cramps1DNA2 CL E G H1763352470ORPHA12232939601810
HP:0003394HP:0031989Perioral spasm1DNA2 CL E G H1763352470ORPHA12902939601810
HP:0003394HP:0031989Perioral spasm1DNA2 CL E G H1763352470ORPHA12232939601810
HP:0003394HP:0011964Intermittent painful muscle spasms1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003394HP:0003449Cold-induced muscle cramps1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003394HP:0003710Exercise-induced muscle cramps1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003394HP:0031989Perioral spasm1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003394HP:0031989Perioral spasm1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003394HP:0003710Exercise-induced muscle cramps1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003394HP:0011964Intermittent painful muscle spasms1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003394HP:0003449Cold-induced muscle cramps1DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003394HP:0003449Cold-induced muscle cramps1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0003394HP:0003710Exercise-induced muscle cramps1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0003394HP:0011964Intermittent painful muscle spasms1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0003394HP:0031989Perioral spasm1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0003394HP:0031989Perioral spasm1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0003394HP:0003449Cold-induced muscle cramps1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0003394HP:0003710Exercise-induced muscle cramps1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0003394HP:0011964Intermittent painful muscle spasms1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0003394HP:0031989Perioral spasm1EPHA4 CL E G H2043803ORPHA1863388602188
HP:0003394HP:0031989Perioral spasm1EPHA4 CL E G H2043803ORPHA1513388602188
HP:0003394HP:0003449Cold-induced muscle cramps1EPHA4 CL E G H2043803ORPHA1863388602188
HP:0003394HP:0003710Exercise-induced muscle cramps1EPHA4 CL E G H2043803ORPHA1863388602188
HP:0003394HP:0011964Intermittent painful muscle spasms1EPHA4 CL E G H2043803ORPHA1863388602188
HP:0003394HP:0003449Cold-induced muscle cramps1EPHA4 CL E G H2043803ORPHA1513388602188
HP:0003394HP:0003710Exercise-induced muscle cramps1EPHA4 CL E G H2043803ORPHA1513388602188
HP:0003394HP:0011964Intermittent painful muscle spasms1EPHA4 CL E G H2043803ORPHA1513388602188
HP:0003394HP:0003710Exercise-induced muscle cramps1ERBB4 CL E G H2066803ORPHA12443432600543
HP:0003394HP:0011964Intermittent painful muscle spasms1ERBB4 CL E G H2066803ORPHA12443432600543
HP:0003394HP:0003449Cold-induced muscle cramps1ERBB4 CL E G H2066803ORPHA12443432600543
HP:0003394HP:0003710Exercise-induced muscle cramps1ERBB4 CL E G H2066803ORPHA11993432600543
HP:0003394HP:0011964Intermittent painful muscle spasms1ERBB4 CL E G H2066803ORPHA11993432600543
HP:0003394HP:0003449Cold-induced muscle cramps1ERBB4 CL E G H2066803ORPHA11993432600543
HP:0003394HP:0031989Perioral spasm1ERBB4 CL E G H2066803ORPHA12443432600543
HP:0003394HP:0031989Perioral spasm1ERBB4 CL E G H2066803ORPHA11993432600543
HP:0003394HP:0031989Perioral spasm1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0003394HP:0003449Cold-induced muscle cramps1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0003394HP:0003710Exercise-induced muscle cramps1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0003394HP:0011964Intermittent painful muscle spasms1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0003394HP:0003449Cold-induced muscle cramps1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0003394HP:0003710Exercise-induced muscle cramps1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0003394HP:0011964Intermittent painful muscle spasms1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0003394HP:0031989Perioral spasm1FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0003394HP:0031989Perioral spasm1FIG4 CL E G H9896803ORPHA164916873609390
HP:0003394HP:0031989Perioral spasm1FIG4 CL E G H9896803ORPHA155816873609390
HP:0003394HP:0011964Intermittent painful muscle spasms1FIG4 CL E G H9896803ORPHA164916873609390
HP:0003394HP:0003449Cold-induced muscle cramps1FIG4 CL E G H9896803ORPHA164916873609390
HP:0003394HP:0003710Exercise-induced muscle cramps1FIG4 CL E G H9896803ORPHA164916873609390
HP:0003394HP:0003449Cold-induced muscle cramps1FIG4 CL E G H9896803ORPHA155816873609390
HP:0003394HP:0003710Exercise-induced muscle cramps1FIG4 CL E G H9896803ORPHA155816873609390
HP:0003394HP:0011964Intermittent painful muscle spasms1FIG4 CL E G H9896803ORPHA155816873609390
HP:0003394HP:0031989Perioral spasm1FKRP CL E G H79147370980ORPHA167117997606596
HP:0003394HP:0031989Perioral spasm1FKRP CL E G H79147370980ORPHA157217997606596
HP:0003394HP:0003449Cold-induced muscle cramps1FKRP CL E G H79147370980ORPHA167117997606596
HP:0003394HP:0003710Exercise-induced muscle cramps1FKRP CL E G H79147370980ORPHA167117997606596
HP:0003394HP:0011964Intermittent painful muscle spasms1FKRP CL E G H79147370980ORPHA167117997606596
HP:0003394HP:0003449Cold-induced muscle cramps1FKRP CL E G H79147370980ORPHA157217997606596
HP:0003394HP:0003710Exercise-induced muscle cramps1FKRP CL E G H79147370980ORPHA157217997606596
HP:0003394HP:0011964Intermittent painful muscle spasms1FKRP CL E G H79147370980ORPHA157217997606596
HP:0003394HP:0003449Cold-induced muscle cramps1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003394HP:0003710Exercise-induced muscle cramps1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003394HP:0011964Intermittent painful muscle spasms1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003394HP:0031989Perioral spasm1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003394HP:0031989Perioral spasm1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003394HP:0003449Cold-induced muscle cramps1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003394HP:0003710Exercise-induced muscle cramps1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003394HP:0011964Intermittent painful muscle spasms1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003394HP:0031989Perioral spasm1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003394HP:0003449Cold-induced muscle cramps1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003394HP:0003710Exercise-induced muscle cramps1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003394HP:0011964Intermittent painful muscle spasms1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003394HP:0003710Exercise-induced muscle cramps1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003394HP:0011964Intermittent painful muscle spasms1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003394HP:0003449Cold-induced muscle cramps1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003394HP:0031989Perioral spasm1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003394HP:0003449Cold-induced muscle cramps1FKTN CL E G H2218370980ORPHA16793622607440
HP:0003394HP:0003710Exercise-induced muscle cramps1FKTN CL E G H2218370980ORPHA16793622607440
HP:0003394HP:0011964Intermittent painful muscle spasms1FKTN CL E G H2218370980ORPHA16793622607440
HP:0003394HP:0003449Cold-induced muscle cramps1FKTN CL E G H2218370980ORPHA15993622607440
HP:0003394HP:0003710Exercise-induced muscle cramps1FKTN CL E G H2218370980ORPHA15993622607440
HP:0003394HP:0011964Intermittent painful muscle spasms1FKTN CL E G H2218370980ORPHA15993622607440
HP:0003394HP:0031989Perioral spasm1FKTN CL E G H2218370980ORPHA16793622607440
HP:0003394HP:0031989Perioral spasm1FKTN CL E G H2218370980ORPHA15993622607440
HP:0003394HP:0003449Cold-induced muscle cramps1FUS CL E G H2521803ORPHA13394010137070
HP:0003394HP:0003710Exercise-induced muscle cramps1FUS CL E G H2521803ORPHA13394010137070
HP:0003394HP:0011964Intermittent painful muscle spasms1FUS CL E G H2521803ORPHA13394010137070
HP:0003394HP:0003449Cold-induced muscle cramps1FUS CL E G H2521803ORPHA13234010137070
HP:0003394HP:0003710Exercise-induced muscle cramps1FUS CL E G H2521803ORPHA13234010137070
HP:0003394HP:0011964Intermittent painful muscle spasms1FUS CL E G H2521803ORPHA13234010137070
HP:0003394HP:0031989Perioral spasm1FUS CL E G H2521803ORPHA13394010137070
HP:0003394HP:0031989Perioral spasm1FUS CL E G H2521803ORPHA13234010137070
HP:0003394HP:0011964Intermittent painful muscle spasms1GABRA3 CL E G H255679102ORPHA12144077305660
HP:0003394HP:0003449Cold-induced muscle cramps1GABRA3 CL E G H255679102ORPHA12144077305660
HP:0003394HP:0003710Exercise-induced muscle cramps1GABRA3 CL E G H255679102ORPHA12144077305660
HP:0003394HP:0031989Perioral spasm1GABRA3 CL E G H255679102ORPHA12184077305660
HP:0003394HP:0031989Perioral spasm1GABRA3 CL E G H255679102ORPHA12144077305660
HP:0003394HP:0011964Intermittent painful muscle spasms1GABRA3 CL E G H255679102ORPHA12184077305660
HP:0003394HP:0003449Cold-induced muscle cramps1GABRA3 CL E G H255679102ORPHA12184077305660
HP:0003394HP:0003710Exercise-induced muscle cramps1GABRA3 CL E G H255679102ORPHA12184077305660
HP:0003394HP:0011964Intermittent painful muscle spasms1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM13744241138292
HP:0003394HP:0003449Cold-induced muscle cramps1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM13744241138292
HP:0003394HP:0003710Exercise-induced muscle cramps1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM13744241138292
HP:0003394HP:0031989Perioral spasm1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14064241138292
HP:0003394HP:0031989Perioral spasm1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM13744241138292
HP:0003394HP:0003710Exercise-induced muscle cramps1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14064241138292
HP:0003394HP:0011964Intermittent painful muscle spasms1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14064241138292
HP:0003394HP:0003449Cold-induced muscle cramps1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14064241138292
HP:0003394HP:0003449Cold-induced muscle cramps1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0003394HP:0003710Exercise-induced muscle cramps1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0003394HP:0011964Intermittent painful muscle spasms1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0003394HP:0031989Perioral spasm1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0003394HP:0031989Perioral spasm1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0003394HP:0003449Cold-induced muscle cramps1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0003394HP:0003710Exercise-induced muscle cramps1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0003394HP:0011964Intermittent painful muscle spasms1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0003394HP:0003449Cold-induced muscle cramps1GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0003394HP:0003710Exercise-induced muscle cramps1GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0003394HP:0011964Intermittent painful muscle spasms1GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0003394HP:0031989Perioral spasm1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0003394HP:0031989Perioral spasm1GLA CL E G H2717301500Fabry disease301500C0002986OMIM18994296300644
HP:0003394HP:0003449Cold-induced muscle cramps1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0003394HP:0003710Exercise-induced muscle cramps1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0003394HP:0011964Intermittent painful muscle spasms1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19484296300644
HP:0003394HP:0031989Perioral spasm1GLE1 CL E G H2733803ORPHA13284315603371
HP:0003394HP:0031989Perioral spasm1GLE1 CL E G H2733803ORPHA13014315603371
HP:0003394HP:0003449Cold-induced muscle cramps1GLE1 CL E G H2733803ORPHA13284315603371
HP:0003394HP:0003710Exercise-induced muscle cramps1GLE1 CL E G H2733803ORPHA13284315603371
HP:0003394HP:0011964Intermittent painful muscle spasms1GLE1 CL E G H2733803ORPHA13284315603371
HP:0003394HP:0003449Cold-induced muscle cramps1GLE1 CL E G H2733803ORPHA13014315603371
HP:0003394HP:0003710Exercise-induced muscle cramps1GLE1 CL E G H2733803ORPHA13014315603371
HP:0003394HP:0011964Intermittent painful muscle spasms1GLE1 CL E G H2733803ORPHA13014315603371
HP:0003394HP:0003449Cold-induced muscle cramps1GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11294379139313
HP:0003394HP:0003710Exercise-induced muscle cramps1GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11294379139313
HP:0003394HP:0011964Intermittent painful muscle spasms1GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11294379139313
HP:0003394HP:0031989Perioral spasm1GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11504379139313
HP:0003394HP:0031989Perioral spasm1GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11294379139313
HP:0003394HP:0003449Cold-induced muscle cramps1GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11504379139313
HP:0003394HP:0003710Exercise-induced muscle cramps1GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11504379139313
HP:0003394HP:0011964Intermittent painful muscle spasms1GNA11 CL E G H2767615361Hypocalcemia, autosomal dominant 2615361C3809243OMIM11504379139313
HP:0003394HP:0031989Perioral spasm1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA15274801600890
HP:0003394HP:0031989Perioral spasm1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA14774801600890
HP:0003394HP:0003449Cold-induced muscle cramps1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA15274801600890
HP:0003394HP:0003710Exercise-induced muscle cramps1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA15274801600890
HP:0003394HP:0011964Intermittent painful muscle spasms1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA15274801600890
HP:0003394HP:0003449Cold-induced muscle cramps1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA14774801600890
HP:0003394HP:0003710Exercise-induced muscle cramps1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA14774801600890
HP:0003394HP:0011964Intermittent painful muscle spasms1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA14774801600890
HP:0003394HP:0003710Exercise-induced muscle cramps1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12424803143450
HP:0003394HP:0011964Intermittent painful muscle spasms1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12424803143450
HP:0003394HP:0003449Cold-induced muscle cramps1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12424803143450
HP:0003394HP:0003710Exercise-induced muscle cramps1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12134803143450
HP:0003394HP:0011964Intermittent painful muscle spasms1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12134803143450
HP:0003394HP:0003449Cold-induced muscle cramps1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12134803143450
HP:0003394HP:0031989Perioral spasm1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12424803143450
HP:0003394HP:0031989Perioral spasm1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12134803143450
HP:0003394HP:0003449Cold-induced muscle cramps1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0003394HP:0003710Exercise-induced muscle cramps1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0003394HP:0011964Intermittent painful muscle spasms1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0003394HP:0031989Perioral spasm1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0003394HP:0031989Perioral spasm1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0003394HP:0003449Cold-induced muscle cramps1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0003394HP:0003710Exercise-induced muscle cramps1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0003394HP:0011964Intermittent painful muscle spasms1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0003394HP:0003710Exercise-induced muscle cramps1HNRNPA1 CL E G H3178803ORPHA1605031164017
HP:0003394HP:0011964Intermittent painful muscle spasms1HNRNPA1 CL E G H3178803ORPHA1605031164017
HP:0003394HP:0003449Cold-induced muscle cramps1HNRNPA1 CL E G H3178803ORPHA1605031164017
HP:0003394HP:0003710Exercise-induced muscle cramps1HNRNPA1 CL E G H3178803ORPHA1595031164017
HP:0003394HP:0011964Intermittent painful muscle spasms1HNRNPA1 CL E G H3178803ORPHA1595031164017
HP:0003394HP:0003449Cold-induced muscle cramps1HNRNPA1 CL E G H3178803ORPHA1595031164017
HP:0003394HP:0031989Perioral spasm1HNRNPA1 CL E G H3178803ORPHA1605031164017
HP:0003394HP:0031989Perioral spasm1HNRNPA1 CL E G H3178803ORPHA1595031164017
HP:0003394HP:0031989Perioral spasm1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0003394HP:0003449Cold-induced muscle cramps1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0003394HP:0003710Exercise-induced muscle cramps1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0003394HP:0011964Intermittent painful muscle spasms1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0003394HP:0003449Cold-induced muscle cramps1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0003394HP:0003710Exercise-induced muscle cramps1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0003394HP:0011964Intermittent painful muscle spasms1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12725246602195
HP:0003394HP:0031989Perioral spasm1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM12995246602195
HP:0003394HP:0011964Intermittent painful muscle spasms1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM18229882611911
HP:0003394HP:0003449Cold-induced muscle cramps1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM18229882611911
HP:0003394HP:0003710Exercise-induced muscle cramps1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM18229882611911
HP:0003394HP:0031989Perioral spasm1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM110029882611911
HP:0003394HP:0031989Perioral spasm1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM18229882611911
HP:0003394HP:0011964Intermittent painful muscle spasms1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM110029882611911
HP:0003394HP:0003449Cold-induced muscle cramps1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM110029882611911
HP:0003394HP:0003710Exercise-induced muscle cramps1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM110029882611911
HP:0003394HP:0011964Intermittent painful muscle spasms1ISPD CL E G H729920370980ORPHA154937276614631
HP:0003394HP:0003449Cold-induced muscle cramps1ISPD CL E G H729920370980ORPHA154937276614631
HP:0003394HP:0003710Exercise-induced muscle cramps1ISPD CL E G H729920370980ORPHA154937276614631
HP:0003394HP:0011964Intermittent painful muscle spasms1ISPD CL E G H729920370980ORPHA154537276614631
HP:0003394HP:0003449Cold-induced muscle cramps1ISPD CL E G H729920370980ORPHA154537276614631
HP:0003394HP:0003710Exercise-induced muscle cramps1ISPD CL E G H729920370980ORPHA154537276614631
HP:0003394HP:0031989Perioral spasm1ISPD CL E G H729920370980ORPHA154937276614631
HP:0003394HP:0031989Perioral spasm1ISPD CL E G H729920370980ORPHA154537276614631
HP:0003394HP:0011964Intermittent painful muscle spasms1KCNA1 CL E G H373637612ORPHA13906218176260
HP:0003394HP:0003449Cold-induced muscle cramps1KCNA1 CL E G H373637612ORPHA13906218176260
HP:0003394HP:0003710Exercise-induced muscle cramps1KCNA1 CL E G H373637612ORPHA13906218176260
HP:0003394HP:0031989Perioral spasm1KCNA1 CL E G H373637612ORPHA14386218176260
HP:0003394HP:0031989Perioral spasm1KCNA1 CL E G H373637612ORPHA13906218176260
HP:0003394HP:0011964Intermittent painful muscle spasms1KCNA1 CL E G H373637612ORPHA14386218176260
HP:0003394HP:0003449Cold-induced muscle cramps1KCNA1 CL E G H373637612ORPHA14386218176260
HP:0003394HP:0003710Exercise-induced muscle cramps1KCNA1 CL E G H373637612ORPHA14386218176260
HP:0003394HP:0011964Intermittent painful muscle spasms1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0003394HP:0003449Cold-induced muscle cramps1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0003394HP:0003710Exercise-induced muscle cramps1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0003394HP:0031989Perioral spasm1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0003394HP:0031989Perioral spasm1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0003394HP:0011964Intermittent painful muscle spasms1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0003394HP:0003449Cold-induced muscle cramps1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0003394HP:0003710Exercise-induced muscle cramps1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0003394HP:0003710Exercise-induced muscle cramps1KCNJ18 CL E G H10013444479102ORPHA11639080613236
HP:0003394HP:0031989Perioral spasm1KCNJ18 CL E G H10013444479102ORPHA11639080613236
HP:0003394HP:0003449Cold-induced muscle cramps1KCNJ18 CL E G H10013444479102ORPHA11639080613236
HP:0003394HP:0011964Intermittent painful muscle spasms1KCNJ18 CL E G H10013444479102ORPHA11639080613236
HP:0003394HP:0031989Perioral spasm1KY CL E G H339855496689ORPHA17926576605739
HP:0003394HP:0031989Perioral spasm1KY CL E G H339855496689ORPHA17826576605739
HP:0003394HP:0003449Cold-induced muscle cramps1KY CL E G H339855496689ORPHA17926576605739
HP:0003394HP:0003710Exercise-induced muscle cramps1KY CL E G H339855496689ORPHA17926576605739
HP:0003394HP:0011964Intermittent painful muscle spasms1KY CL E G H339855496689ORPHA17926576605739
HP:0003394HP:0003449Cold-induced muscle cramps1KY CL E G H339855496689ORPHA17826576605739
HP:0003394HP:0003710Exercise-induced muscle cramps1KY CL E G H339855496689ORPHA17826576605739
HP:0003394HP:0011964Intermittent painful muscle spasms1KY CL E G H339855496689ORPHA17826576605739
HP:0003394HP:0003710Exercise-induced muscle cramps1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0003394HP:0011964Intermittent painful muscle spasms1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0003394HP:0003449Cold-induced muscle cramps1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0003394HP:0011964Intermittent painful muscle spasms1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0003394HP:0003449Cold-induced muscle cramps1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0003394HP:0003710Exercise-induced muscle cramps1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0003394HP:0031989Perioral spasm1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0003394HP:0031989Perioral spasm1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0003394HP:0003449Cold-induced muscle cramps1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11326535150000
HP:0003394HP:0003710Exercise-induced muscle cramps1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11326535150000
HP:0003394HP:0011964Intermittent painful muscle spasms1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11326535150000
HP:0003394HP:0031989Perioral spasm1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11396535150000
HP:0003394HP:0031989Perioral spasm1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11326535150000
HP:0003394HP:0003449Cold-induced muscle cramps1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11396535150000
HP:0003394HP:0003710Exercise-induced muscle cramps1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11396535150000
HP:0003394HP:0011964Intermittent painful muscle spasms1LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11396535150000
HP:0003394HP:0003449Cold-induced muscle cramps1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003394HP:0003710Exercise-induced muscle cramps1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003394HP:0011964Intermittent painful muscle spasms1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003394HP:0003449Cold-induced muscle cramps1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003394HP:0003710Exercise-induced muscle cramps1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003394HP:0011964Intermittent painful muscle spasms1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003394HP:0031989Perioral spasm1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003394HP:0031989Perioral spasm1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003394HP:0031989Perioral spasm1MATR3 CL E G H9782803ORPHA12996912164015
HP:0003394HP:0031989Perioral spasm1MATR3 CL E G H9782803ORPHA12496912164015
HP:0003394HP:0011964Intermittent painful muscle spasms1MATR3 CL E G H9782803ORPHA12996912164015
HP:0003394HP:0003449Cold-induced muscle cramps1MATR3 CL E G H9782803ORPHA12996912164015
HP:0003394HP:0003710Exercise-induced muscle cramps1MATR3 CL E G H9782803ORPHA12996912164015
HP:0003394HP:0011964Intermittent painful muscle spasms1MATR3 CL E G H9782803ORPHA12496912164015
HP:0003394HP:0003449Cold-induced muscle cramps1MATR3 CL E G H9782803ORPHA12496912164015
HP:0003394HP:0003710Exercise-induced muscle cramps1MATR3 CL E G H9782803ORPHA12496912164015
HP:0003394HP:0003449Cold-induced muscle cramps1MFN2 CL E G H992799947ORPHA194416877608507
HP:0003394HP:0003710Exercise-induced muscle cramps1MFN2 CL E G H992799947ORPHA194416877608507
HP:0003394HP:0011964Intermittent painful muscle spasms1MFN2 CL E G H992799947ORPHA194416877608507
HP:0003394HP:0003449Cold-induced muscle cramps1MFN2 CL E G H992799947ORPHA182416877608507
HP:0003394HP:0003710Exercise-induced muscle cramps1MFN2 CL E G H992799947ORPHA182416877608507
HP:0003394HP:0011964Intermittent painful muscle spasms1MFN2 CL E G H992799947ORPHA182416877608507
HP:0003394HP:0031989Perioral spasm1MFN2 CL E G H992799947ORPHA194416877608507
HP:0003394HP:0031989Perioral spasm1MFN2 CL E G H992799947ORPHA182416877608507
HP:0003394HP:0031989Perioral spasm1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0003394HP:0031989Perioral spasm1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0003394HP:0003449Cold-induced muscle cramps1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0003394HP:0011964Intermittent painful muscle spasms1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0003394HP:0003710Exercise-induced muscle cramps1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0003394HP:0003449Cold-induced muscle cramps1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0003394HP:0003710Exercise-induced muscle cramps1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0003394HP:0011964Intermittent painful muscle spasms1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0003394HP:0003710Exercise-induced muscle cramps1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003394HP:0031989Perioral spasm1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003394HP:0003449Cold-induced muscle cramps1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003394HP:0011964Intermittent painful muscle spasms1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003394HP:0003449Cold-induced muscle cramps1NEFH CL E G H4744803ORPHA13007737162230
HP:0003394HP:0003710Exercise-induced muscle cramps1NEFH CL E G H4744803ORPHA13007737162230
HP:0003394HP:0011964Intermittent painful muscle spasms1NEFH CL E G H4744803ORPHA13007737162230
HP:0003394HP:0003449Cold-induced muscle cramps1NEFH CL E G H4744803