Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003394	HP:0003394	Muscle spasm	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0003394	HP:0003394	Muscle spasm	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0003394	HP:0003394	Muscle spasm	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0003394	HP:0003394	Muscle spasm	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0003394	HP:0003394	Muscle spasm	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent	74
HP:0003394	HP:0003394	Muscle spasm	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0003394	HP:0003394	Muscle spasm	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0003394	HP:0003394	Muscle spasm	0	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent	62
HP:0003394	HP:0003394	Muscle spasm	0	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent	65
HP:0003394	HP:0003394	Muscle spasm	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0003394	HP:0003394	Muscle spasm	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0003394	HP:0003394	Muscle spasm	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.	4
HP:0003394	HP:0003394	Muscle spasm	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0003394	HP:0003394	Muscle spasm	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0003394	HP:0003394	Muscle spasm	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003394	HP:0003394	Muscle spasm	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0003394	HP:0003394	Muscle spasm	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0003394	HP:0003394	Muscle spasm	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional	14
HP:0003394	HP:0003394	Muscle spasm	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional	14
HP:0003394	HP:0003394	Muscle spasm	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional	14
HP:0003394	HP:0003394	Muscle spasm	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0003394	HP:0003394	Muscle spasm	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0003394	HP:0003394	Muscle spasm	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0003394	HP:0003394	Muscle spasm	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	247
HP:0003394	HP:0003394	Muscle spasm	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0003394	HP:0003394	Muscle spasm	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0003394	HP:0003394	Muscle spasm	0	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	.	5
HP:0003394	HP:0003394	Muscle spasm	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	5
HP:0003394	HP:0003394	Muscle spasm	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0003394	HP:0003394	Muscle spasm	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0003394	HP:0003394	Muscle spasm	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0003394	HP:0003394	Muscle spasm	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003394	HP:0003394	Muscle spasm	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0003394	HP:0003394	Muscle spasm	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0003394	HP:0003394	Muscle spasm	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0003394	HP:0003394	Muscle spasm	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0003394	HP:0003394	Muscle spasm	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0003394	HP:0003394	Muscle spasm	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	373
HP:0003394	HP:0003394	Muscle spasm	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0003394	HP:0003394	Muscle spasm	0	COL4A1 CL E G H	1282	2202	ORPHA:73229	HANAC syndrome	HP:0040281 - Very frequent	193
HP:0003394	HP:0003394	Muscle spasm	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	660
HP:0003394	HP:0003394	Muscle spasm	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent	325
HP:0003394	HP:0003394	Muscle spasm	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003394	HP:0003394	Muscle spasm	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0003394	HP:0003394	Muscle spasm	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0003394	HP:0003394	Muscle spasm	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0003394	HP:0003394	Muscle spasm	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	.	101
HP:0003394	HP:0003394	Muscle spasm	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0003394	HP:0003394	Muscle spasm	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0003394	HP:0003394	Muscle spasm	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0003394	HP:0003394	Muscle spasm	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional	57
HP:0003394	HP:0003394	Muscle spasm	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0003394	HP:0003394	Muscle spasm	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040282 - Frequent	1496
HP:0003394	HP:0003394	Muscle spasm	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003394	HP:0003394	Muscle spasm	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0003394	HP:0003394	Muscle spasm	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0003394	HP:0003394	Muscle spasm	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0003394	HP:0003394	Muscle spasm	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0003394	HP:0003394	Muscle spasm	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0003394	HP:0003394	Muscle spasm	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0003394	HP:0003394	Muscle spasm	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0003394	HP:0003394	Muscle spasm	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003394	HP:0003394	Muscle spasm	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0003394	HP:0003394	Muscle spasm	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0003394	HP:0003394	Muscle spasm	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	.	1
HP:0003394	HP:0003394	Muscle spasm	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0003394	HP:0003394	Muscle spasm	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0003394	HP:0003394	Muscle spasm	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0003394	HP:0003394	Muscle spasm	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003394	HP:0003394	Muscle spasm	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003394	HP:0003394	Muscle spasm	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0003394	HP:0003394	Muscle spasm	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0003394	HP:0003394	Muscle spasm	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0003394	HP:0003394	Muscle spasm	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003394	HP:0003394	Muscle spasm	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0003394	HP:0003394	Muscle spasm	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0003394	HP:0003394	Muscle spasm	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0003394	HP:0003394	Muscle spasm	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0003394	HP:0003394	Muscle spasm	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0003394	HP:0003394	Muscle spasm	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0003394	HP:0003394	Muscle spasm	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0003394	HP:0003394	Muscle spasm	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0003394	HP:0003394	Muscle spasm	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0003394	HP:0003394	Muscle spasm	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0003394	HP:0003394	Muscle spasm	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0003394	HP:0003394	Muscle spasm	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0003394	HP:0003394	Muscle spasm	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0003394	HP:0003394	Muscle spasm	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional	34
HP:0003394	HP:0003394	Muscle spasm	0	GNA11 CL E G H	2767	4379	OMIM:615361	Hypocalcemia, autosomal dominant 2	.	16
HP:0003394	HP:0003394	Muscle spasm	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0003394	HP:0003394	Muscle spasm	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0003394	HP:0003394	Muscle spasm	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0003394	HP:0003394	Muscle spasm	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0003394	HP:0003394	Muscle spasm	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0003394	HP:0003394	Muscle spasm	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0003394	HP:0003394	Muscle spasm	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0003394	HP:0003394	Muscle spasm	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0003394	HP:0003394	Muscle spasm	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0003394	HP:0003394	Muscle spasm	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0003394	HP:0003394	Muscle spasm	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0003394	HP:0003394	Muscle spasm	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003394	HP:0003394	Muscle spasm	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0003394	HP:0003394	Muscle spasm	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0003394	HP:0003394	Muscle spasm	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0003394	HP:0003394	Muscle spasm	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0003394	HP:0003394	Muscle spasm	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent	145
HP:0003394	HP:0003394	Muscle spasm	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0003394	HP:0003394	Muscle spasm	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	10
HP:0003394	HP:0003394	Muscle spasm	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0003394	HP:0003394	Muscle spasm	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0003394	HP:0003394	Muscle spasm	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003394	HP:0003394	Muscle spasm	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease		211
HP:0003394	HP:0003394	Muscle spasm	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.	35
HP:0003394	HP:0003394	Muscle spasm	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0003394	HP:0003394	Muscle spasm	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003394	HP:0003394	Muscle spasm	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0003394	HP:0003394	Muscle spasm	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0003394	HP:0003394	Muscle spasm	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0003394	HP:0003394	Muscle spasm	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0003394	HP:0003394	Muscle spasm	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0003394	HP:0003394	Muscle spasm	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0003394	HP:0003394	Muscle spasm	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003394	HP:0003394	Muscle spasm	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0003394	HP:0003394	Muscle spasm	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.	8
HP:0003394	HP:0003394	Muscle spasm	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0003394	HP:0003394	Muscle spasm	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0003394	HP:0003394	Muscle spasm	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0003394	HP:0003394	Muscle spasm	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0003394	HP:0003394	Muscle spasm	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0003394	HP:0003394	Muscle spasm	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0003394	HP:0003394	Muscle spasm	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent	163
HP:0003394	HP:0003394	Muscle spasm	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003394	HP:0003394	Muscle spasm	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	19
HP:0003394	HP:0003394	Muscle spasm	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0003394	HP:0003394	Muscle spasm	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII		64
HP:0003394	HP:0003394	Muscle spasm	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0003394	HP:0003394	Muscle spasm	0	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of		26
HP:0003394	HP:0003394	Muscle spasm	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent	21
HP:0003394	HP:0003394	Muscle spasm	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency		21
HP:0003394	HP:0003394	Muscle spasm	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0003394	HP:0003394	Muscle spasm	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0003394	HP:0003394	Muscle spasm	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0003394	HP:0003394	Muscle spasm	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0003394	HP:0003394	Muscle spasm	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0003394	HP:0003394	Muscle spasm	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0003394	HP:0003394	Muscle spasm	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0003394	HP:0003394	Muscle spasm	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0003394	HP:0003394	Muscle spasm	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0003394	HP:0003394	Muscle spasm	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0003394	HP:0003394	Muscle spasm	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003394	HP:0003394	Muscle spasm	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0003394	HP:0003394	Muscle spasm	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003394	HP:0003394	Muscle spasm	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003394	HP:0003394	Muscle spasm	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0003394	HP:0003394	Muscle spasm	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0003394	HP:0003394	Muscle spasm	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0003394	HP:0003394	Muscle spasm	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0003394	HP:0003394	Muscle spasm	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency		71
HP:0003394	HP:0003394	Muscle spasm	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency		166
HP:0003394	HP:0003394	Muscle spasm	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0003394	HP:0003394	Muscle spasm	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0003394	HP:0003394	Muscle spasm	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0003394	HP:0003394	Muscle spasm	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0003394	HP:0003394	Muscle spasm	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0003394	HP:0003394	Muscle spasm	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0003394	HP:0003394	Muscle spasm	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040282 - Frequent	263
HP:0003394	HP:0003394	Muscle spasm	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040281 - Very frequent	263
HP:0003394	HP:0003394	Muscle spasm	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0003394	HP:0003394	Muscle spasm	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0003394	HP:0003394	Muscle spasm	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0003394	HP:0003394	Muscle spasm	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.	145
HP:0003394	HP:0003394	Muscle spasm	0	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect		74
HP:0003394	HP:0003394	Muscle spasm	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0003394	HP:0003394	Muscle spasm	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0003394	HP:0003394	Muscle spasm	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0003394	HP:0003394	Muscle spasm	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0003394	HP:0003394	Muscle spasm	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0003394	HP:0003394	Muscle spasm	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0003394	HP:0003394	Muscle spasm	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0003394	HP:0003394	Muscle spasm	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003394	HP:0003394	Muscle spasm	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0003394	HP:0003394	Muscle spasm	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent	31
HP:0003394	HP:0003394	Muscle spasm	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003394	HP:0003394	Muscle spasm	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0003394	HP:0003394	Muscle spasm	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0003394	HP:0003394	Muscle spasm	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0003394	HP:0003394	Muscle spasm	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0003394	HP:0003394	Muscle spasm	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003394	HP:0003394	Muscle spasm	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0003394	HP:0003394	Muscle spasm	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0003394	HP:0003394	Muscle spasm	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0003394	HP:0003394	Muscle spasm	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent	27
HP:0003394	HP:0003394	Muscle spasm	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003394	HP:0003394	Muscle spasm	0	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal	.	85
HP:0003394	HP:0003394	Muscle spasm	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.	2
HP:0003394	HP:0003394	Muscle spasm	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0003394	HP:0003394	Muscle spasm	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0003394	HP:0003394	Muscle spasm	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003394	HP:0003394	Muscle spasm	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0003394	HP:0003394	Muscle spasm	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003394	HP:0003394	Muscle spasm	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0003394	HP:0003394	Muscle spasm	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0003394	HP:0003394	Muscle spasm	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included		116
HP:0003394	HP:0003394	Muscle spasm	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0003394	HP:0003394	Muscle spasm	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63
HP:0003394	HP:0003394	Muscle spasm	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0003394	HP:0003394	Muscle spasm	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0003394	HP:0003394	Muscle spasm	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0003394	HP:0003394	Muscle spasm	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83
HP:0003394	HP:0031989	Perioral spasm	1	CL E G H
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0003394	HP:0011964	Intermittent painful muscle spasms	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum	.	148
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.	148
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0003394	HP:0011964	Intermittent painful muscle spasms	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0003394	HP:0011964	Intermittent painful muscle spasms	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.	64
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of	.	26
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	.	21
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040282 - Frequent	166
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0003394	HP:0003449	Cold-induced muscle cramps	1	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0003394	HP:0011964	Intermittent painful muscle spasms	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0003394	HP:0003710	Exercise-induced muscle cramps	1	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect	.	74
HP:0003394	HP:0011964	Intermittent painful muscle spasms	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent	18
HP:0003394	HP:0003435	Cold-induced hand cramps	2	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	105
HP:0003394	HP:0003435	Cold-induced hand cramps	2	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0003394	HP:0003435	Cold-induced hand cramps	2	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0003394	HP:0003435	Cold-induced hand cramps	2	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0003394	HP:0008991	Exercise-induced leg cramps	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0003394	HP:0003435	Cold-induced hand cramps	2	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	87