Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the musculature (HP:0003011)help
Parent Node:
expand
Abnormal muscle physiology (HP:0011804)help
..Starting node
..expand
Myotonia (HP:0002486)help
Term ID: 2486
Name: Myotonia
Synonym: Delayed relaxation of muscle fibers after contraction; Delayed relaxation of muscle fibres after contraction
Definition: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Comments:
Reference: HP:0002486
Genes and Diseases:
 
       Child Nodes:
........expandEMG: myotonic runs (HP:0003730) help
........expandMyotonia with warm-up phenomenon (HP:0003740) help
........expandPercussion myotonia (HP:0010548) help
................... HP:0003719 Muscle mounding
................... HP:0003760 Percussion-induced rapid rolling muscle contractions
........expandParadoxical myotonia (HP:0011809) help
........expandHandgrip myotonia (HP:0012899) help
........expandMyotonia of the face (HP:0012900) help
........expandMyotonia of the jaw (HP:0012901) help
........expandMyotonia of the lower limb (HP:0012902) help
........expandMyotonia of the upper limb (HP:0012903) help
........expandCold-sensitive myotonia (HP:0012904) help

 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 spasm (HP:0003394) help
..expandMuscle stiffness (HP:0003552) help
..expandMuscle weakness (HP:0001324) help
..expandTetany (HP:0001281) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002486HP:0002486Myotonia0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0002486Myotonia0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0002486Myotonia0CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0002486Myotonia0CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0002486Myotonia0CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0002486Myotonia0CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0002486Myotonia0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0002486Myotonia0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0002486Myotonia0DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0002486Myotonia0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0002486Myotonia0EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0002486Myotonia0EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0002486Myotonia0FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0002486Myotonia0FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0002486Myotonia0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0002486Myotonia0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0002486Myotonia0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0002486Myotonia0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0002486Myotonia0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0002486Myotonia0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0002486Myotonia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0002486Myotonia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0002486Myotonia0LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0002486Myotonia0LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0002486Myotonia0LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0002486Myotonia0LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0002486Myotonia0PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0002486Myotonia0PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0002486Myotonia0SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0002486Myotonia0SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0002486Myotonia0SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0002486Myotonia0SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0002486Myotonia0SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0002486Myotonia0SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0002486Myotonia0TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0002486Myotonia0TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0002486Myotonia0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0002486Myotonia0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0012903Myotonia of the upper limb1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0011809Paradoxical myotonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0003730EMG: myotonic runs1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0012899Handgrip myotonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0012901Myotonia of the jaw1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0003740Myotonia with warm-up phenomenon1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0010548Percussion myotonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0012904Cold-sensitive myotonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0012900Myotonia of the face1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0012902Myotonia of the lower limb1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0003740Myotonia with warm-up phenomenon1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0010548Percussion myotonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0012904Cold-sensitive myotonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0012900Myotonia of the face1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0012902Myotonia of the lower limb1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0012903Myotonia of the upper limb1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0011809Paradoxical myotonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0003730EMG: myotonic runs1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0012899Handgrip myotonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0012901Myotonia of the jaw1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0011809Paradoxical myotonia1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0003730EMG: myotonic runs1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0012899Handgrip myotonia1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0012901Myotonia of the jaw1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0012903Myotonia of the upper limb1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0010548Percussion myotonia1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0012904Cold-sensitive myotonia1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0012900Myotonia of the face1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0012902Myotonia of the lower limb1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0003740Myotonia with warm-up phenomenon1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0010548Percussion myotonia1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0012904Cold-sensitive myotonia1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0012900Myotonia of the face1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0012902Myotonia of the lower limb1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0003740Myotonia with warm-up phenomenon1CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0011809Paradoxical myotonia1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0003730EMG: myotonic runs1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0012899Handgrip myotonia1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0012901Myotonia of the jaw1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0012903Myotonia of the upper limb1CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0012900Myotonia of the face1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0012902Myotonia of the lower limb1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0003740Myotonia with warm-up phenomenon1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0010548Percussion myotonia1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0012904Cold-sensitive myotonia1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0012899Handgrip myotonia1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0012901Myotonia of the jaw1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0012903Myotonia of the upper limb1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0011809Paradoxical myotonia1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0003730EMG: myotonic runs1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0012901Myotonia of the jaw1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0012903Myotonia of the upper limb1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0011809Paradoxical myotonia1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0003730EMG: myotonic runs1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0012899Handgrip myotonia1CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0012900Myotonia of the face1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0012902Myotonia of the lower limb1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0003740Myotonia with warm-up phenomenon1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0010548Percussion myotonia1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0012904Cold-sensitive myotonia1CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0012902Myotonia of the lower limb1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0003740Myotonia with warm-up phenomenon1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0010548Percussion myotonia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0012904Cold-sensitive myotonia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0012900Myotonia of the face1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0012902Myotonia of the lower limb1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0003740Myotonia with warm-up phenomenon1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0010548Percussion myotonia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0012904Cold-sensitive myotonia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0012900Myotonia of the face1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0012903Myotonia of the upper limb1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0011809Paradoxical myotonia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0003730EMG: myotonic runs1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0012899Handgrip myotonia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0012901Myotonia of the jaw1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0012903Myotonia of the upper limb1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0011809Paradoxical myotonia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0003730EMG: myotonic runs1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0012899Handgrip myotonia1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0012901Myotonia of the jaw1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0010548Percussion myotonia1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0012904Cold-sensitive myotonia1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0012902Myotonia of the lower limb1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0011809Paradoxical myotonia1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0003730EMG: myotonic runs1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0012901Myotonia of the jaw1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0003740Myotonia with warm-up phenomenon1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0012900Myotonia of the face1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0012899Handgrip myotonia1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0012903Myotonia of the upper limb1DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0003730EMG: myotonic runs1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0012901Myotonia of the jaw1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0011809Paradoxical myotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0012900Myotonia of the face1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0003740Myotonia with warm-up phenomenon1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0012899Handgrip myotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0012903Myotonia of the upper limb1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0012904Cold-sensitive myotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0012902Myotonia of the lower limb1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0010548Percussion myotonia1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0012900Myotonia of the face1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0012902Myotonia of the lower limb1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0003740Myotonia with warm-up phenomenon1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0010548Percussion myotonia1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0012904Cold-sensitive myotonia1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0012900Myotonia of the face1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0012902Myotonia of the lower limb1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0003740Myotonia with warm-up phenomenon1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0010548Percussion myotonia1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0012904Cold-sensitive myotonia1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0012899Handgrip myotonia1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0012901Myotonia of the jaw1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0012903Myotonia of the upper limb1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0011809Paradoxical myotonia1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0003730EMG: myotonic runs1EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0012901Myotonia of the jaw1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0012903Myotonia of the upper limb1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0011809Paradoxical myotonia1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0003730EMG: myotonic runs1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0012899Handgrip myotonia1EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0011809Paradoxical myotonia1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0003730EMG: myotonic runs1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0012899Handgrip myotonia1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0012901Myotonia of the jaw1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0012903Myotonia of the upper limb1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0003730EMG: myotonic runs1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0012899Handgrip myotonia1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0012901Myotonia of the jaw1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0012903Myotonia of the upper limb1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0011809Paradoxical myotonia1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0010548Percussion myotonia1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0012904Cold-sensitive myotonia1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0012900Myotonia of the face1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0012902Myotonia of the lower limb1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0003740Myotonia with warm-up phenomenon1FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0010548Percussion myotonia1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0012904Cold-sensitive myotonia1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0012900Myotonia of the face1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0012902Myotonia of the lower limb1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0003740Myotonia with warm-up phenomenon1FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0012900Myotonia of the face1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0012902Myotonia of the lower limb1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0003740Myotonia with warm-up phenomenon1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0010548Percussion myotonia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0012904Cold-sensitive myotonia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0012899Handgrip myotonia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0012901Myotonia of the jaw1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0012903Myotonia of the upper limb1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0011809Paradoxical myotonia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0003730EMG: myotonic runs1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0012899Handgrip myotonia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0012901Myotonia of the jaw1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0012903Myotonia of the upper limb1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0011809Paradoxical myotonia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0003730EMG: myotonic runs1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0012900Myotonia of the face1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0012902Myotonia of the lower limb1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0003740Myotonia with warm-up phenomenon1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0010548Percussion myotonia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0012904Cold-sensitive myotonia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0012899Handgrip myotonia1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0012901Myotonia of the jaw1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0012903Myotonia of the upper limb1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0011809Paradoxical myotonia1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0003730EMG: myotonic runs1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0012904Cold-sensitive myotonia1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0012900Myotonia of the face1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0012902Myotonia of the lower limb1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0003740Myotonia with warm-up phenomenon1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0010548Percussion myotonia1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0012904Cold-sensitive myotonia1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0012900Myotonia of the face1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0012902Myotonia of the lower limb1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0003740Myotonia with warm-up phenomenon1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0010548Percussion myotonia1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0012899Handgrip myotonia1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0012901Myotonia of the jaw1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0012903Myotonia of the upper limb1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0011809Paradoxical myotonia1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0003730EMG: myotonic runs1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0011809Paradoxical myotonia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0003730EMG: myotonic runs1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0012899Handgrip myotonia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0012901Myotonia of the jaw1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0012903Myotonia of the upper limb1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0011809Paradoxical myotonia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0003730EMG: myotonic runs1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0012899Handgrip myotonia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0012901Myotonia of the jaw1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0012903Myotonia of the upper limb1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0003740Myotonia with warm-up phenomenon1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0010548Percussion myotonia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0012904Cold-sensitive myotonia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0012900Myotonia of the face1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0012902Myotonia of the lower limb1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0003740Myotonia with warm-up phenomenon1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0010548Percussion myotonia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0012904Cold-sensitive myotonia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0012900Myotonia of the face1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0012902Myotonia of the lower limb1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0003730EMG: myotonic runs1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0012899Handgrip myotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0012901Myotonia of the jaw1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0012903Myotonia of the upper limb1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0011809Paradoxical myotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0003730EMG: myotonic runs1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0012899Handgrip myotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0012901Myotonia of the jaw1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0012903Myotonia of the upper limb1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0011809Paradoxical myotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0010548Percussion myotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0012904Cold-sensitive myotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0012900Myotonia of the face1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0012902Myotonia of the lower limb1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0003740Myotonia with warm-up phenomenon1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0010548Percussion myotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0012904Cold-sensitive myotonia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0012900Myotonia of the face1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0012902Myotonia of the lower limb1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0003740Myotonia with warm-up phenomenon1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0012903Myotonia of the upper limb1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0011809Paradoxical myotonia1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0003730EMG: myotonic runs1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0012899Handgrip myotonia1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0012901Myotonia of the jaw1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0012901Myotonia of the jaw1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0012903Myotonia of the upper limb1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0011809Paradoxical myotonia1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0003730EMG: myotonic runs1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0012899Handgrip myotonia1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0011809Paradoxical myotonia1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0003730EMG: myotonic runs1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0012899Handgrip myotonia1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0012901Myotonia of the jaw1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0012903Myotonia of the upper limb1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0012900Myotonia of the face1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0012902Myotonia of the lower limb1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0003740Myotonia with warm-up phenomenon1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0010548Percussion myotonia1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0012904Cold-sensitive myotonia1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0003740Myotonia with warm-up phenomenon1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0010548Percussion myotonia1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0012904Cold-sensitive myotonia1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0012900Myotonia of the face1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0012902Myotonia of the lower limb1LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0012900Myotonia of the face1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0012902Myotonia of the lower limb1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0003740Myotonia with warm-up phenomenon1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0010548Percussion myotonia1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0012904Cold-sensitive myotonia1LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0003740Myotonia with warm-up phenomenon1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0010548Percussion myotonia1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0012904Cold-sensitive myotonia1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0012900Myotonia of the face1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0012902Myotonia of the lower limb1LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0012899Handgrip myotonia1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0012901Myotonia of the jaw1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0012903Myotonia of the upper limb1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0011809Paradoxical myotonia1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0003730EMG: myotonic runs1LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0012903Myotonia of the upper limb1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0011809Paradoxical myotonia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0003730EMG: myotonic runs1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0012899Handgrip myotonia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0012901Myotonia of the jaw1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0003740Myotonia with warm-up phenomenon1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0010548Percussion myotonia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0012904Cold-sensitive myotonia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0012900Myotonia of the face1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0012902Myotonia of the lower limb1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0003740Myotonia with warm-up phenomenon1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0010548Percussion myotonia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0012904Cold-sensitive myotonia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0012900Myotonia of the face1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0012902Myotonia of the lower limb1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0012903Myotonia of the upper limb1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0011809Paradoxical myotonia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0003730EMG: myotonic runs1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0012899Handgrip myotonia1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0012901Myotonia of the jaw1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0012899Handgrip myotonia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0012901Myotonia of the jaw1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0012903Myotonia of the upper limb1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0011809Paradoxical myotonia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0003730EMG: myotonic runs1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0012900Myotonia of the face1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0012902Myotonia of the lower limb1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0010548Percussion myotonia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0012904Cold-sensitive myotonia1SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0010548Percussion myotonia1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0012904Cold-sensitive myotonia1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0012900Myotonia of the face1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0012902Myotonia of the lower limb1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0011809Paradoxical myotonia1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0003730EMG: myotonic runs1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0012899Handgrip myotonia1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0012901Myotonia of the jaw1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0012903Myotonia of the upper limb1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0003730EMG: myotonic runs1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0012899Handgrip myotonia1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0012901Myotonia of the jaw1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0012903Myotonia of the upper limb1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0011809Paradoxical myotonia1SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0010548Percussion myotonia1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0012904Cold-sensitive myotonia1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0012900Myotonia of the face1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0012902Myotonia of the lower limb1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0012901Myotonia of the jaw1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0012903Myotonia of the upper limb1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0011809Paradoxical myotonia1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0012899Handgrip myotonia1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0003730EMG: myotonic runs1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0012899Handgrip myotonia1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0012903Myotonia of the upper limb1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0011809Paradoxical myotonia1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0012901Myotonia of the jaw1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0012904Cold-sensitive myotonia1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0012902Myotonia of the lower limb1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0010548Percussion myotonia1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0012900Myotonia of the face1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0012904Cold-sensitive myotonia1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0012902Myotonia of the lower limb1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0003740Myotonia with warm-up phenomenon1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0010548Percussion myotonia1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0012900Myotonia of the face1SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0003730EMG: myotonic runs1SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0012904Cold-sensitive myotonia1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0012900Myotonia of the face1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0012902Myotonia of the lower limb1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0003740Myotonia with warm-up phenomenon1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0010548Percussion myotonia1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0012904Cold-sensitive myotonia1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0012900Myotonia of the face1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0012902Myotonia of the lower limb1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0003740Myotonia with warm-up phenomenon1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0010548Percussion myotonia1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0012899Handgrip myotonia1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0012901Myotonia of the jaw1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0012903Myotonia of the upper limb1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0011809Paradoxical myotonia1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0003730EMG: myotonic runs1TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0012899Handgrip myotonia1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0012901Myotonia of the jaw1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0012903Myotonia of the upper limb1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0011809Paradoxical myotonia1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0003730EMG: myotonic runs1TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0012900Myotonia of the face1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0012902Myotonia of the lower limb1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0003740Myotonia with warm-up phenomenon1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0010548Percussion myotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0012904Cold-sensitive myotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0012902Myotonia of the lower limb1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0003740Myotonia with warm-up phenomenon1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0010548Percussion myotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0012904Cold-sensitive myotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0012900Myotonia of the face1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0012901Myotonia of the jaw1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0012903Myotonia of the upper limb1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0011809Paradoxical myotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0003730EMG: myotonic runs1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0012899Handgrip myotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0012901Myotonia of the jaw1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0012903Myotonia of the upper limb1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0011809Paradoxical myotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0003730EMG: myotonic runs1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0012899Handgrip myotonia1VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0003719Muscle mounding2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0002486HP:0003719Muscle mounding2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0002486HP:0003719Muscle mounding2CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2CLCN1 CL E G H1180614ORPHA16862019118425
HP:0002486HP:0003719Muscle mounding2CLCN1 CL E G H1180614ORPHA17892019118425
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0003719Muscle mounding2CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0003719Muscle mounding2CNBP CL E G H7555606ORPHA11613164116955
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2CNBP CL E G H7555606ORPHA11713164116955
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0003719Muscle mounding2CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0002486HP:0003719Muscle mounding2CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0003719Muscle mounding2DMPK CL E G H1760273ORPHA12352933605377
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0003719Muscle mounding2DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12352933605377
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0003719Muscle mounding2EMD CL E G H201098863ORPHA15793331300384
HP:0002486HP:0003719Muscle mounding2EMD CL E G H201098863ORPHA15303331300384
HP:0002486HP:0003719Muscle mounding2FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0003719Muscle mounding2FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2FHL1 CL E G H227398863ORPHA14863702300163
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2FHL1 CL E G H227398863ORPHA14373702300163
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0003719Muscle mounding2HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0003719Muscle mounding2HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002486HP:0003719Muscle mounding2HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2HSPG2 CL E G H3339800ORPHA113275273142461
HP:0002486HP:0003719Muscle mounding2HSPG2 CL E G H3339800ORPHA116005273142461
HP:0002486HP:0003719Muscle mounding2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0003719Muscle mounding2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0002486HP:0003719Muscle mounding2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0003719Muscle mounding2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0002486HP:0003719Muscle mounding2LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0003719Muscle mounding2LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0003719Muscle mounding2LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2LMNA CL E G H400098855ORPHA114866636150330
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2LMNA CL E G H400098853ORPHA113476636150330
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2LMNA CL E G H400098855ORPHA113476636150330
HP:0002486HP:0003719Muscle mounding2LMNA CL E G H400098853ORPHA114866636150330
HP:0002486HP:0003719Muscle mounding2PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13438877610681
HP:0002486HP:0003719Muscle mounding2PFKM CL E G H5213371Qazi Markouizos syndromeORPHA13778877610681
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H632999735ORPHA1124110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H632999736ORPHA1124110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H632999734ORPHA1124110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H6329682ORPHA1108110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H632999735ORPHA1108110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H632999736ORPHA1108110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H632999734ORPHA1108110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H6329682ORPHA1124110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1124110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H6329170500Hyperkalemic Periodic Paralysis Type 1170500CN074266OMIM1108110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0003719Muscle mounding2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1124110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SCN4A CL E G H6329608390Potassium aggravated myotonia608390C0752355OMIM1108110591603967
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0003719Muscle mounding2SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0003719Muscle mounding2SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0002486HP:0003719Muscle mounding2SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0003719Muscle mounding2SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0003719Muscle mounding2TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0002486HP:0003719Muscle mounding2TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0002486HP:0003719Muscle mounding2VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0002486HP:0003719Muscle mounding2VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002486HP:0002486Myotonia0KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0002486Myotonia0KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0002486Myotonia0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0002486Myotonia0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0003740Myotonia with warm-up phenomenon1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0010548Percussion myotonia1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0012904Cold-sensitive myotonia1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0012900Myotonia of the face1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0012902Myotonia of the lower limb1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0012903Myotonia of the upper limb1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0011809Paradoxical myotonia1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0003730EMG: myotonic runs1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0012899Handgrip myotonia1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0012901Myotonia of the jaw1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0011809Paradoxical myotonia1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0003730EMG: myotonic runs1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0012899Handgrip myotonia1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0012901Myotonia of the jaw1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0012903Myotonia of the upper limb1KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0003740Myotonia with warm-up phenomenon1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0010548Percussion myotonia1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0012904Cold-sensitive myotonia1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0012900Myotonia of the face1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0012902Myotonia of the lower limb1KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0003740Myotonia with warm-up phenomenon1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0010548Percussion myotonia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0012904Cold-sensitive myotonia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0012900Myotonia of the face1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0012902Myotonia of the lower limb1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0003740Myotonia with warm-up phenomenon1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0010548Percussion myotonia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0012904Cold-sensitive myotonia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0012900Myotonia of the face1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0012902Myotonia of the lower limb1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0011809Paradoxical myotonia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0003730EMG: myotonic runs1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0012899Handgrip myotonia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0012901Myotonia of the jaw1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0012903Myotonia of the upper limb1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0011809Paradoxical myotonia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0003730EMG: myotonic runs1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0012899Handgrip myotonia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0012901Myotonia of the jaw1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0012903Myotonia of the upper limb1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0003719Muscle mounding2KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0003719Muscle mounding2KCNA1 CL E G H373637612ORPHA03906218176260
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2KCNA1 CL E G H373637612ORPHA04386218176260
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0003760Percussion-induced rapid rolling muscle contractions2UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342
HP:0002486HP:0003719Muscle mounding2UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM09712513191342
HP:0002486HP:0003719Muscle mounding2UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM08312513191342


Genes (25) :ACTA1 ANO5 CACNA1A CAV3 CAVIN1 CLCN1 CNBP DMPK DNAJB6 EMD FHL1 HINT1 HSPG2 KCNA1 LIFR LMNA PFKM PRPS1 SCN4A SGCG SYNE1 SYNE2 TMEM43 UCHL1 VMA21

Diseases (36) :108500 614 606 602668 273 160900 98863 137200 800 255800 37612 601559 98855 98853 371 99735 682 99736 99734 170500 608390 615491 310440 97240 206549 160800 255700 34516 324442 684 168300 353 488650 606072 613327 1187
 

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