Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001332	HP:0001332	Dystonia	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0001332	Dystonia	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0001332	Dystonia	0	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0001332	Dystonia	0	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0001332	Dystonia	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0001332	Dystonia	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0001332	Dystonia	0	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0001332	Dystonia	0	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0001332	Dystonia	0	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0001332	Dystonia	0	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0001332	Dystonia	0	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0001332	Dystonia	0	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0001332	Dystonia	0	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0001332	Dystonia	0	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0001332	Dystonia	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0001332	Dystonia	0	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0001332	Dystonia	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0001332	Dystonia	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0001332	Dystonia	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0001332	Dystonia	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0001332	Dystonia	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	133	7179	603178
HP:0001332	HP:0001332	Dystonia	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	146	7179	603178
HP:0001332	HP:0001332	Dystonia	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	226	568	607246
HP:0001332	HP:0001332	Dystonia	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	394	568	607246
HP:0001332	HP:0001332	Dystonia	0	AP4B1 CL E G H	10717	280763				ORPHA	1	189	572	607245
HP:0001332	HP:0001332	Dystonia	0	AP4B1 CL E G H	10717	280763				ORPHA	1	254	572	607245
HP:0001332	HP:0001332	Dystonia	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	189	572	607245
HP:0001332	HP:0001332	Dystonia	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	254	572	607245
HP:0001332	HP:0001332	Dystonia	0	AP4E1 CL E G H	23431	280763				ORPHA	1	238	573	607244
HP:0001332	HP:0001332	Dystonia	0	AP4E1 CL E G H	23431	280763				ORPHA	1	332	573	607244
HP:0001332	HP:0001332	Dystonia	0	AP4M1 CL E G H	9179	280763				ORPHA	1	199	574	602296
HP:0001332	HP:0001332	Dystonia	0	AP4M1 CL E G H	9179	280763				ORPHA	1	264	574	602296
HP:0001332	HP:0001332	Dystonia	0	AP4S1 CL E G H	11154	280763				ORPHA	1	89	575	607243
HP:0001332	HP:0001332	Dystonia	0	AP4S1 CL E G H	11154	280763				ORPHA	1	110	575	607243
HP:0001332	HP:0001332	Dystonia	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	236	15984	606350
HP:0001332	HP:0001332	Dystonia	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	258	15984	606350
HP:0001332	HP:0001332	Dystonia	0	ARSA CL E G H	410	309256				ORPHA	1	732	713	607574
HP:0001332	HP:0001332	Dystonia	0	ARSA CL E G H	410	309256				ORPHA	1	841	713	607574
HP:0001332	HP:0001332	Dystonia	0	ARSA CL E G H	410	309263				ORPHA	1	732	713	607574
HP:0001332	HP:0001332	Dystonia	0	ARSA CL E G H	410	309263				ORPHA	1	841	713	607574
HP:0001332	HP:0001332	Dystonia	0	ARSA CL E G H	410	309271				ORPHA	1	732	713	607574
HP:0001332	HP:0001332	Dystonia	0	ARSA CL E G H	410	309271				ORPHA	1	841	713	607574
HP:0001332	HP:0001332	Dystonia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	732	713	607574
HP:0001332	HP:0001332	Dystonia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	841	713	607574
HP:0001332	HP:0001332	Dystonia	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	62	29561	611647
HP:0001332	HP:0001332	Dystonia	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	65	29561	611647
HP:0001332	HP:0001332	Dystonia	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	565	18060	300382
HP:0001332	HP:0001332	Dystonia	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	624	18060	300382
HP:0001332	HP:0001332	Dystonia	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	10320	795	607585
HP:0001332	HP:0001332	Dystonia	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	11382	795	607585
HP:0001332	HP:0001332	Dystonia	0	ATP13A2 CL E G H	23400	314632				ORPHA	1	487	30213	610513
HP:0001332	HP:0001332	Dystonia	0	ATP13A2 CL E G H	23400	314632				ORPHA	1	609	30213	610513
HP:0001332	HP:0001332	Dystonia	0	ATP13A2 CL E G H	23400	513436				ORPHA	1	487	30213	610513
HP:0001332	HP:0001332	Dystonia	0	ATP13A2 CL E G H	23400	513436				ORPHA	1	609	30213	610513
HP:0001332	HP:0001332	Dystonia	0	ATP1A2 CL E G H	477	104290	Alternating hemiplegia of childhood 1	104290	C3549447	OMIM	1	726	800	182340
HP:0001332	HP:0001332	Dystonia	0	ATP1A2 CL E G H	477	104290	Alternating hemiplegia of childhood 1	104290	C3549447	OMIM	1	801	800	182340
HP:0001332	HP:0001332	Dystonia	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	625	801	182350
HP:0001332	HP:0001332	Dystonia	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	687	801	182350
HP:0001332	HP:0001332	Dystonia	0	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	625	801	182350
HP:0001332	HP:0001332	Dystonia	0	ATP1A3 CL E G H	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	601338	C1832466	OMIM	1	687	801	182350
HP:0001332	HP:0001332	Dystonia	0	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1389	870	606882
HP:0001332	HP:0001332	Dystonia	0	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1579	870	606882
HP:0001332	HP:0001332	Dystonia	0	ATXN1 CL E G H	6310	98755				ORPHA	1	76	10548	601556
HP:0001332	HP:0001332	Dystonia	0	ATXN1 CL E G H	6310	98755				ORPHA	1	78	10548	601556
HP:0001332	HP:0001332	Dystonia	0	ATXN2 CL E G H	6311	98756				ORPHA	1	50	10555	601517
HP:0001332	HP:0001332	Dystonia	0	ATXN2 CL E G H	6311	98756				ORPHA	1	52	10555	601517
HP:0001332	HP:0001332	Dystonia	0	ATXN3 CL E G H	4287	276238				ORPHA	1	44	7106	607047
HP:0001332	HP:0001332	Dystonia	0	ATXN3 CL E G H	4287	276241				ORPHA	1	44	7106	607047
HP:0001332	HP:0001332	Dystonia	0	ATXN3 CL E G H	4287	276244				ORPHA	1	44	7106	607047
HP:0001332	HP:0001332	Dystonia	0	ATXN8 CL E G H	724066	98760				ORPHA	1	2	32925	613289
HP:0001332	HP:0001332	Dystonia	0	ATXN8OS CL E G H	6315	98760				ORPHA	1	72	10561	603680
HP:0001332	HP:0001332	Dystonia	0	ATXN8OS CL E G H	6315	98760				ORPHA	1	76	10561	603680
HP:0001332	HP:0001332	Dystonia	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	145	890	600529
HP:0001332	HP:0001332	Dystonia	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	177	890	600529
HP:0001332	HP:0001332	Dystonia	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	148	4117	601873
HP:0001332	HP:0001332	Dystonia	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	169	4117	601873
HP:0001332	HP:0001332	Dystonia	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	282	16695	300398
HP:0001332	HP:0001332	Dystonia	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	301	16695	300398
HP:0001332	HP:0001332	Dystonia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	249	1020	603647
HP:0001332	HP:0001332	Dystonia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	279	1020	603647
HP:0001332	HP:0001332	Dystonia	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	330	15832	606158
HP:0001332	HP:0001332	Dystonia	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	373	15832	606158
HP:0001332	HP:0001332	Dystonia	0	C19orf12 CL E G H	83636	289560				ORPHA	1	240	25443	614297
HP:0001332	HP:0001332	Dystonia	0	C19orf12 CL E G H	83636	289560				ORPHA	1	248	25443	614297
HP:0001332	HP:0001332	Dystonia	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	2047	1388	601011
HP:0001332	HP:0001332	Dystonia	0	CACNA1A CL E G H	773	108500	Episodic ataxia type 2	108500	C1720416	OMIM	1	2326	1388	601011
HP:0001332	HP:0001332	Dystonia	0	CACNA1E CL E G H	777	618285	618285	618285		OMIM	1	410	1392	601013
HP:0001332	HP:0001332	Dystonia	0	CACNA1E CL E G H	777	618285	618285	618285		OMIM	1	643	1392	601013
HP:0001332	HP:0001332	Dystonia	0	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	357	1394	604065
HP:0001332	HP:0001332	Dystonia	0	CACNA1G CL E G H	8913	618087	SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087	CN252698	OMIM	1	374	1394	604065
HP:0001332	HP:0001332	Dystonia	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	531	25695	612800
HP:0001332	HP:0001332	Dystonia	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	625	25695	612800
HP:0001332	HP:0001332	Dystonia	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	110	24537	609512
HP:0001332	HP:0001332	Dystonia	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	130	24537	609512
HP:0001332	HP:0001332	Dystonia	0	CHRNA2 CL E G H	1135	610353	Epilepsy, nocturnal frontal lobe, type 4	610353	C1835905	OMIM	1	540	1956	118502
HP:0001332	HP:0001332	Dystonia	0	CHRNA2 CL E G H	1135	610353	Epilepsy, nocturnal frontal lobe, type 4	610353	C1835905	OMIM	1	589	1956	118502
HP:0001332	HP:0001332	Dystonia	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	78	26877	616174
HP:0001332	HP:0001332	Dystonia	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	94	26877	616174
HP:0001332	HP:0001332	Dystonia	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	158	8011	602346
HP:0001332	HP:0001332	Dystonia	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	216	8011	602346
HP:0001332	HP:0001332	Dystonia	0	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	127	25302	612837
HP:0001332	HP:0001332	Dystonia	0	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	164	25302	612837
HP:0001332	HP:0001332	Dystonia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	247	2260	602125
HP:0001332	HP:0001332	Dystonia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	263	2260	602125
HP:0001332	HP:0001332	Dystonia	0	COX15 CL E G H	1355	255241				ORPHA	1	216	2263	603646
HP:0001332	HP:0001332	Dystonia	0	COX15 CL E G H	1355	255241				ORPHA	1	233	2263	603646
HP:0001332	HP:0001332	Dystonia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	216	2263	603646
HP:0001332	HP:0001332	Dystonia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	233	2263	603646
HP:0001332	HP:0001332	Dystonia	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	729	26169	613129
HP:0001332	HP:0001332	Dystonia	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	918	26169	613129
HP:0001332	HP:0001332	Dystonia	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	59	25613	616120
HP:0001332	HP:0001332	Dystonia	0	CYP27A1 CL E G H	1593	909				ORPHA	1	439	2605	606530
HP:0001332	HP:0001332	Dystonia	0	CYP27A1 CL E G H	1593	909				ORPHA	1	599	2605	606530
HP:0001332	HP:0001332	Dystonia	0	DCAF17 CL E G H	80067	3464				ORPHA	1	229	25784	612515
HP:0001332	HP:0001332	Dystonia	0	DCAF17 CL E G H	80067	3464				ORPHA	1	251	25784	612515
HP:0001332	HP:0001332	Dystonia	0	DCAF17 CL E G H	80067	241080	Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities	241080	C0342286	OMIM	1	229	25784	612515
HP:0001332	HP:0001332	Dystonia	0	DCAF17 CL E G H	80067	241080	Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities	241080	C0342286	OMIM	1	251	25784	612515
HP:0001332	HP:0001332	Dystonia	0	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	1	199	20603	608172
HP:0001332	HP:0001332	Dystonia	0	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	1	256	20603	608172
HP:0001332	HP:0001332	Dystonia	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	49	16716	616423
HP:0001332	HP:0001332	Dystonia	0	DHX30 CL E G H	22907	617804	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	617804	C4540496	OMIM	1	58	16716	616423
HP:0001332	HP:0001332	Dystonia	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	329	2898	238331
HP:0001332	HP:0001332	Dystonia	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	355	2898	238331
HP:0001332	HP:0001332	Dystonia	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	161	2938	612186
HP:0001332	HP:0001332	Dystonia	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	306	2938	612186
HP:0001332	HP:0001332	Dystonia	0	DNAJC6 CL E G H	9829	391411				ORPHA	1	173	15469	608375
HP:0001332	HP:0001332	Dystonia	0	DNAJC6 CL E G H	9829	391411				ORPHA	1	215	15469	608375
HP:0001332	HP:0001332	Dystonia	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	207	29419	612799
HP:0001332	HP:0001332	Dystonia	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	235	29419	612799
HP:0001332	HP:0001332	Dystonia	0	ECHS1 CL E G H	1892	255241				ORPHA	1	241	3151	602292
HP:0001332	HP:0001332	Dystonia	0	ECHS1 CL E G H	1892	255241				ORPHA	1	301	3151	602292
HP:0001332	HP:0001332	Dystonia	0	ECHS1 CL E G H	1892	616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	616277	C4225391	OMIM	1	241	3151	602292
HP:0001332	HP:0001332	Dystonia	0	ECHS1 CL E G H	1892	616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	616277	C4225391	OMIM	1	301	3151	602292
HP:0001332	HP:0001332	Dystonia	0	ECM1 CL E G H	1893	530	Acute myeloblastic leukemia type 5			ORPHA	1	76	3153	602201
HP:0001332	HP:0001332	Dystonia	0	ECM1 CL E G H	1893	530	Acute myeloblastic leukemia type 5			ORPHA	1	77	3153	602201
HP:0001332	HP:0001332	Dystonia	0	EPRS CL E G H	2058	617951	LEUKODYSTROPHY, HYPOMYELINATING, 15	617951	CN244566	OMIM	1		3418	138295
HP:0001332	HP:0001332	Dystonia	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	1	241	21197	611026
HP:0001332	HP:0001332	Dystonia	0	FA2H CL E G H	79152	612319	Spastic paraplegia 35	612319	C3668943	OMIM	1	275	21197	611026
HP:0001332	HP:0001332	Dystonia	0	FBXO7 CL E G H	25793	171695				ORPHA	1	161	13586	605648
HP:0001332	HP:0001332	Dystonia	0	FBXO7 CL E G H	25793	171695				ORPHA	1	183	13586	605648
HP:0001332	HP:0001332	Dystonia	0	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	161	13586	605648
HP:0001332	HP:0001332	Dystonia	0	FBXO7 CL E G H	25793	260300	Parkinson disease 15	260300	C1850100	OMIM	1	183	13586	605648
HP:0001332	HP:0001332	Dystonia	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	491	3811	164874
HP:0001332	HP:0001332	Dystonia	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	534	3811	164874
HP:0001332	HP:0001332	Dystonia	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	210	26927	613622
HP:0001332	HP:0001332	Dystonia	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	231	26927	613622
HP:0001332	HP:0001332	Dystonia	0	FTL CL E G H	2512	157846				ORPHA	1	109	3999	134790
HP:0001332	HP:0001332	Dystonia	0	FTL CL E G H	2512	157846				ORPHA	1	138	3999	134790
HP:0001332	HP:0001332	Dystonia	0	GABBR2 CL E G H	9568	617903	NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	617903	CN870852	OMIM	1	504	4507	607340
HP:0001332	HP:0001332	Dystonia	0	GABBR2 CL E G H	9568	617903	NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	617903	CN870852	OMIM	1	557	4507	607340
HP:0001332	HP:0001332	Dystonia	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	321	4082	600232
HP:0001332	HP:0001332	Dystonia	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	358	4082	600232
HP:0001332	HP:0001332	Dystonia	0	GBA CL E G H	2629	77260				ORPHA	1	261	4177	606463
HP:0001332	HP:0001332	Dystonia	0	GBA CL E G H	2629	77260				ORPHA	1	269	4177	606463
HP:0001332	HP:0001332	Dystonia	0	GCDH CL E G H	2639	25				ORPHA	1	468	4189	608801
HP:0001332	HP:0001332	Dystonia	0	GCDH CL E G H	2639	25				ORPHA	1	521	4189	608801
HP:0001332	HP:0001332	Dystonia	0	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	468	4189	608801
HP:0001332	HP:0001332	Dystonia	0	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	521	4189	608801
HP:0001332	HP:0001332	Dystonia	0	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	257	4193	600225
HP:0001332	HP:0001332	Dystonia	0	GCH1 CL E G H	2643	233910	GTP cyclohydrolase I deficiency	233910	C0268467	OMIM	1	315	4193	600225
HP:0001332	HP:0001332	Dystonia	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	174	17494	608803
HP:0001332	HP:0001332	Dystonia	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	221	17494	608803
HP:0001332	HP:0001332	Dystonia	0	GLB1 CL E G H	2720	230650	Gangliosidosis GM1 type 3	230650	C0268273	OMIM	1	507	4298	611458
HP:0001332	HP:0001332	Dystonia	0	GLB1 CL E G H	2720	230650	Gangliosidosis GM1 type 3	230650	C0268273	OMIM	1	596	4298	611458
HP:0001332	HP:0001332	Dystonia	0	GM2A CL E G H	2760	309246				ORPHA	1	142	4367	613109
HP:0001332	HP:0001332	Dystonia	0	GM2A CL E G H	2760	309246				ORPHA	1	153	4367	613109
HP:0001332	HP:0001332	Dystonia	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	142	4367	613109
HP:0001332	HP:0001332	Dystonia	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	153	4367	613109
HP:0001332	HP:0001332	Dystonia	0	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	255	4389	139311
HP:0001332	HP:0001332	Dystonia	0	GNAO1 CL E G H	2775	617493	Neurodevelopmental disorder with involuntary movements	617493	C4479569	OMIM	1	285	4389	139311
HP:0001332	HP:0001332	Dystonia	0	GRIN1 CL E G H	2902	617820	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE	617820	CN737161	OMIM	1	531	4584	138249
HP:0001332	HP:0001332	Dystonia	0	GRIN1 CL E G H	2902	617820	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE	617820	CN737161	OMIM	1	587	4584	138249
HP:0001332	HP:0001332	Dystonia	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	893	4586	138252
HP:0001332	HP:0001332	Dystonia	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	965	4586	138252
HP:0001332	HP:0001332	Dystonia	0	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	893	4586	138252
HP:0001332	HP:0001332	Dystonia	0	GRIN2B CL E G H	2904	613970	Mental retardation, autosomal dominant 6	613970	C3151411	OMIM	1	965	4586	138252
HP:0001332	HP:0001332	Dystonia	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	34	4670	607434
HP:0001332	HP:0001332	Dystonia	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	50	4670	607434
HP:0001332	HP:0001332	Dystonia	0	HACE1 CL E G H	57531	464282				ORPHA	1	76	21033	610876
HP:0001332	HP:0001332	Dystonia	0	HACE1 CL E G H	57531	464282				ORPHA	1	91	21033	610876
HP:0001332	HP:0001332	Dystonia	0	HIBCH CL E G H	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	250620	C0342738	OMIM	1	137	4908	610690
HP:0001332	HP:0001332	Dystonia	0	HIBCH CL E G H	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	250620	C0342738	OMIM	1	153	4908	610690
HP:0001332	HP:0001332	Dystonia	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	306	5157	308000
HP:0001332	HP:0001332	Dystonia	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	320	5157	308000
HP:0001332	HP:0001332	Dystonia	0	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	96	14348	606441
HP:0001332	HP:0001332	Dystonia	0	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	132	14348	606441
HP:0001332	HP:0001332	Dystonia	0	HTT CL E G H	3064	248111				ORPHA	1	145	4851	613004
HP:0001332	HP:0001332	Dystonia	0	HTT CL E G H	3064	248111				ORPHA	1	393	4851	613004
HP:0001332	HP:0001332	Dystonia	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	145	4851	613004
HP:0001332	HP:0001332	Dystonia	0	HTT CL E G H	3064	617435	Lopes-Maciel-Rodan syndrome	617435	C4479491	OMIM	1	393	4851	613004
HP:0001332	HP:0001332	Dystonia	0	IFIH1 CL E G H	64135	51				ORPHA	1	476	18873	606951
HP:0001332	HP:0001332	Dystonia	0	IFIH1 CL E G H	64135	51				ORPHA	1	718	18873	606951
HP:0001332	HP:0001332	Dystonia	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	476	18873	606951
HP:0001332	HP:0001332	Dystonia	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	718	18873	606951
HP:0001332	HP:0001332	Dystonia	0	IRF2BPL CL E G H	64207	618088	NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	618088	CN252701	OMIM	1	109	14282	611720
HP:0001332	HP:0001332	Dystonia	0	IRF2BPL CL E G H	64207	618088	NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	618088	CN252701	OMIM	1	116	14282	611720
HP:0001332	HP:0001332	Dystonia	0	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	122	14203	605268
HP:0001332	HP:0001332	Dystonia	0	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	123	14203	605268
HP:0001332	HP:0001332	Dystonia	0	KCNQ2 CL E G H	3785	439218				ORPHA	1	1380	6296	602235
HP:0001332	HP:0001332	Dystonia	0	KCNQ2 CL E G H	3785	439218				ORPHA	1	1534	6296	602235
HP:0001332	HP:0001332	Dystonia	0	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	1380	6296	602235
HP:0001332	HP:0001332	Dystonia	0	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	1534	6296	602235
HP:0001332	HP:0001332	Dystonia	0	LIPT1 CL E G H	51601	255241				ORPHA	1	73	29569	610284
HP:0001332	HP:0001332	Dystonia	0	LIPT1 CL E G H	51601	255241				ORPHA	1	90	29569	610284
HP:0001332	HP:0001332	Dystonia	0	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	73	29569	610284
HP:0001332	HP:0001332	Dystonia	0	LIPT1 CL E G H	51601	616299	Lipoyltransferase 1 deficiency	616299	C4225379	OMIM	1	90	29569	610284
HP:0001332	HP:0001332	Dystonia	0	LIPT2 CL E G H	387787	617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	617668	C4540052	OMIM	1	27	37216	617659
HP:0001332	HP:0001332	Dystonia	0	LIPT2 CL E G H	387787	617668	ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES	617668	C4540052	OMIM	1	50	37216	617659
HP:0001332	HP:0001332	Dystonia	0	MARS2 CL E G H	92935	314603				ORPHA	1	95	25133	609728
HP:0001332	HP:0001332	Dystonia	0	MARS2 CL E G H	92935	314603				ORPHA	1	109	25133	609728
HP:0001332	HP:0001332	Dystonia	0	MARS2 CL E G H	92935	611390	Ataxia, spastic, 3, autosomal recessive	611390	C1969645	OMIM	1	95	25133	609728
HP:0001332	HP:0001332	Dystonia	0	MARS2 CL E G H	92935	611390	Ataxia, spastic, 3, autosomal recessive	611390	C1969645	OMIM	1	109	25133	609728
HP:0001332	HP:0001332	Dystonia	0	MAT1A CL E G H	4143	250850	Hepatic methionine adenosyltransferase deficiency	250850	C0268621	OMIM	1	231	6903	610550
HP:0001332	HP:0001332	Dystonia	0	MAT1A CL E G H	4143	250850	Hepatic methionine adenosyltransferase deficiency	250850	C0268621	OMIM	1	257	6903	610550
HP:0001332	HP:0001332	Dystonia	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	418	13356	605248
HP:0001332	HP:0001332	Dystonia	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	448	13356	605248
HP:0001332	HP:0001332	Dystonia	0	MDH2 CL E G H	4191	617339	Epileptic encephalopathy, early infantile, 51	617339	C4479208	OMIM	1	90	6971	154100
HP:0001332	HP:0001332	Dystonia	0	MDH2 CL E G H	4191	617339	Epileptic encephalopathy, early infantile, 51	617339	C4479208	OMIM	1	169	6971	154100
HP:0001332	HP:0001332	Dystonia	0	MECP2 CL E G H	4204	778				ORPHA	1	1603	6990	300005
HP:0001332	HP:0001332	Dystonia	0	MECP2 CL E G H	4204	778				ORPHA	1	1684	6990	300005
HP:0001332	HP:0001332	Dystonia	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1603	6990	300005
HP:0001332	HP:0001332	Dystonia	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1684	6990	300005
HP:0001332	HP:0001332	Dystonia	0	MICU1 CL E G H	10367	401768				ORPHA	1	101	1530	605084
HP:0001332	HP:0001332	Dystonia	0	MICU1 CL E G H	10367	401768				ORPHA	1	135	1530	605084
HP:0001332	HP:0001332	Dystonia	0	MMADHC CL E G H	27249	277410	Methylmalonic acidemia with homocystinuria cblD	277410	C1848552	OMIM	1	175	25221	611935
HP:0001332	HP:0001332	Dystonia	0	MMADHC CL E G H	27249	277410	Methylmalonic acidemia with homocystinuria cblD	277410	C1848552	OMIM	1	201	25221	611935
HP:0001332	HP:0001332	Dystonia	0	MMUT CL E G H	4594	79312				ORPHA	1	611	7526	609058
HP:0001332	HP:0001332	Dystonia	0	MMUT CL E G H	4594	79312				ORPHA	1	684	7526	609058
HP:0001332	HP:0001332	Dystonia	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	155	7224	137960
HP:0001332	HP:0001332	Dystonia	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	170	7224	137960
HP:0001332	HP:0001332	Dystonia	0	MRE11 CL E G H	4361	251347				ORPHA	1	1258	7230	600814
HP:0001332	HP:0001332	Dystonia	0	MRE11 CL E G H	4361	251347				ORPHA	1	1259	7230	600814
HP:0001332	HP:0001332	Dystonia	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1258	7230	600814
HP:0001332	HP:0001332	Dystonia	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1259	7230	600814
HP:0001332	HP:0001332	Dystonia	0	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	63	16618	611994
HP:0001332	HP:0001332	Dystonia	0	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	69	16618	611994
HP:0001332	HP:0001332	Dystonia	0	MT-ATP6 CL E G H	4508	225154				ORPHA	1		7414	516060
HP:0001332	HP:0001332	Dystonia	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0001332	HP:0001332	Dystonia	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0001332	HP:0001332	Dystonia	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0001332	HP:0001332	Dystonia	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0001332	HP:0001332	Dystonia	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0001332	HP:0001332	Dystonia	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0001332	HP:0001332	Dystonia	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0001332	HP:0001332	Dystonia	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0001332	HP:0001332	Dystonia	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0001332	HP:0001332	Dystonia	0	MTFMT CL E G H	123263	255241				ORPHA	1	132	29666	611766
HP:0001332	HP:0001332	Dystonia	0	MTFMT CL E G H	123263	255241				ORPHA	1	162	29666	611766
HP:0001332	HP:0001332	Dystonia	0	NADK2 CL E G H	133686	431361				ORPHA	1	113	26404	615787
HP:0001332	HP:0001332	Dystonia	0	NADK2 CL E G H	133686	431361				ORPHA	1	143	26404	615787
HP:0001332	HP:0001332	Dystonia	0	NADK2 CL E G H	133686	616034	2,4-Dienoyl-CoA reductase deficiency	616034	C1857252	OMIM	1	113	26404	615787
HP:0001332	HP:0001332	Dystonia	0	NADK2 CL E G H	133686	616034	2,4-Dienoyl-CoA reductase deficiency	616034	C1857252	OMIM	1	143	26404	615787
HP:0001332	HP:0001332	Dystonia	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	336	7684	603835
HP:0001332	HP:0001332	Dystonia	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	359	7684	603835
HP:0001332	HP:0001332	Dystonia	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	53	23987	614530
HP:0001332	HP:0001332	Dystonia	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	64	23987	614530
HP:0001332	HP:0001332	Dystonia	0	NDUFA12 CL E G H	55967	618244	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	618244		OMIM	1	53	23987	614530
HP:0001332	HP:0001332	Dystonia	0	NDUFA12 CL E G H	55967	618244	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	618244		OMIM	1	64	23987	614530
HP:0001332	HP:0001332	Dystonia	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	18	17194	609435
HP:0001332	HP:0001332	Dystonia	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	19	17194	609435
HP:0001332	HP:0001332	Dystonia	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	71	7685	602137
HP:0001332	HP:0001332	Dystonia	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	74	7685	602137
HP:0001332	HP:0001332	Dystonia	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	70	7687	603833
HP:0001332	HP:0001332	Dystonia	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	73	7687	603833
HP:0001332	HP:0001332	Dystonia	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	149	7693	603834
HP:0001332	HP:0001332	Dystonia	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	172	7693	603834
HP:0001332	HP:0001332	Dystonia	0	NDUFA9 CL E G H	4704	618247	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26	618247		OMIM	1	149	7693	603834
HP:0001332	HP:0001332	Dystonia	0	NDUFA9 CL E G H	4704	618247	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26	618247		OMIM	1	172	7693	603834
HP:0001332	HP:0001332	Dystonia	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	102	28086	609653
HP:0001332	HP:0001332	Dystonia	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	109	28086	609653
HP:0001332	HP:0001332	Dystonia	0	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	103	21034	611776
HP:0001332	HP:0001332	Dystonia	0	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	109	21034	611776
HP:0001332	HP:0001332	Dystonia	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	221	15899	612360
HP:0001332	HP:0001332	Dystonia	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	228	15899	612360
HP:0001332	HP:0001332	Dystonia	0	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	221	15899	612360
HP:0001332	HP:0001332	Dystonia	0	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	228	15899	612360
HP:0001332	HP:0001332	Dystonia	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	166	28625	612392
HP:0001332	HP:0001332	Dystonia	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	185	28625	612392
HP:0001332	HP:0001332	Dystonia	0	NDUFAF6 CL E G H	137682	618239	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239		OMIM	1	166	28625	612392
HP:0001332	HP:0001332	Dystonia	0	NDUFAF6 CL E G H	137682	618239	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239		OMIM	1	185	28625	612392
HP:0001332	HP:0001332	Dystonia	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	263	7707	157655
HP:0001332	HP:0001332	Dystonia	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	301	7707	157655
HP:0001332	HP:0001332	Dystonia	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	263	7707	157655
HP:0001332	HP:0001332	Dystonia	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	301	7707	157655
HP:0001332	HP:0001332	Dystonia	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	139	7708	602985
HP:0001332	HP:0001332	Dystonia	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	160	7708	602985
HP:0001332	HP:0001332	Dystonia	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	77	7710	603846
HP:0001332	HP:0001332	Dystonia	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	91	7710	603846
HP:0001332	HP:0001332	Dystonia	0	NDUFS3 CL E G H	4722	618230	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8	618230		OMIM	1	77	7710	603846
HP:0001332	HP:0001332	Dystonia	0	NDUFS3 CL E G H	4722	618230	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8	618230		OMIM	1	91	7710	603846
HP:0001332	HP:0001332	Dystonia	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	97	7711	602694
HP:0001332	HP:0001332	Dystonia	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	101	7711	602694
HP:0001332	HP:0001332	Dystonia	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	130	7714	601825
HP:0001332	HP:0001332	Dystonia	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	142	7714	601825
HP:0001332	HP:0001332	Dystonia	0	NDUFS7 CL E G H	374291	618224	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3	618224		OMIM	1	130	7714	601825
HP:0001332	HP:0001332	Dystonia	0	NDUFS7 CL E G H	374291	618224	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3	618224		OMIM	1	142	7714	601825
HP:0001332	HP:0001332	Dystonia	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	82	7715	602141
HP:0001332	HP:0001332	Dystonia	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	88	7715	602141
HP:0001332	HP:0001332	Dystonia	0	NDUFS8 CL E G H	4728	618222	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2	618222		OMIM	1	82	7715	602141
HP:0001332	HP:0001332	Dystonia	0	NDUFS8 CL E G H	4728	618222	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2	618222		OMIM	1	88	7715	602141
HP:0001332	HP:0001332	Dystonia	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	174	7716	161015
HP:0001332	HP:0001332	Dystonia	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	200	7716	161015
HP:0001332	HP:0001332	Dystonia	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	163	7717	600532
HP:0001332	HP:0001332	Dystonia	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	180	7717	600532
HP:0001332	HP:0001332	Dystonia	0	NHLRC2 CL E G H	374354	618278	618278	618278		OMIM	1	33	24731	0
HP:0001332	HP:0001332	Dystonia	0	NHLRC2 CL E G H	374354	618278	618278	618278		OMIM	1	36	24731	0
HP:0001332	HP:0001332	Dystonia	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	170	11825	600635
HP:0001332	HP:0001332	Dystonia	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	194	11825	600635
HP:0001332	HP:0001332	Dystonia	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	119	19321	605955
HP:0001332	HP:0001332	Dystonia	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	151	19321	605955
HP:0001332	HP:0001332	Dystonia	0	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	119	19321	605955
HP:0001332	HP:0001332	Dystonia	0	NKX6-2 CL E G H	84504	617560	SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560	C4479653	OMIM	1	151	19321	605955
HP:0001332	HP:0001332	Dystonia	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	1085	7897	607623
HP:0001332	HP:0001332	Dystonia	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	1288	7897	607623
HP:0001332	HP:0001332	Dystonia	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	127	14537	601015
HP:0001332	HP:0001332	Dystonia	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	147	14537	601015
HP:0001332	HP:0001332	Dystonia	0	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	89	7981	601828
HP:0001332	HP:0001332	Dystonia	0	NR4A2 CL E G H	4929	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	95	7981	601828
HP:0001332	HP:0001332	Dystonia	0	NUP62 CL E G H	23636	225154				ORPHA	1	43	8066	605815
HP:0001332	HP:0001332	Dystonia	0	NUP62 CL E G H	23636	225154				ORPHA	1	77	8066	605815
HP:0001332	HP:0001332	Dystonia	0	NUP62 CL E G H	23636	271930	Striatonigral degeneration infantile	271930	C0795996	OMIM	1	43	8066	605815
HP:0001332	HP:0001332	Dystonia	0	NUP62 CL E G H	23636	271930	Striatonigral degeneration infantile	271930	C0795996	OMIM	1	77	8066	605815
HP:0001332	HP:0001332	Dystonia	0	PANK2 CL E G H	80025	607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	607236	C1846582	OMIM	1	263	15894	606157
HP:0001332	HP:0001332	Dystonia	0	PANK2 CL E G H	80025	607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	607236	C1846582	OMIM	1	331	15894	606157
HP:0001332	HP:0001332	Dystonia	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	606	8653	232000
HP:0001332	HP:0001332	Dystonia	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	749	8653	232000
HP:0001332	HP:0001332	Dystonia	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	480	8654	232050
HP:0001332	HP:0001332	Dystonia	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	618	8654	232050
HP:0001332	HP:0001332	Dystonia	0	PCDH12 CL E G H	51294	251280	Microcephaly with spastic quadriplegia	251280	C1855055	OMIM	1	90	8657	605622
HP:0001332	HP:0001332	Dystonia	0	PCDH12 CL E G H	51294	251280	Microcephaly with spastic quadriplegia	251280	C1855055	OMIM	1	170	8657	605622
HP:0001332	HP:0001332	Dystonia	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	93	8800	190040
HP:0001332	HP:0001332	Dystonia	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	95	8800	190040
HP:0001332	HP:0001332	Dystonia	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	283	8804	173410
HP:0001332	HP:0001332	Dystonia	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	304	8804	173410
HP:0001332	HP:0001332	Dystonia	0	PDHA1 CL E G H	5160	255241				ORPHA	1	530	8806	300502
HP:0001332	HP:0001332	Dystonia	0	PDHA1 CL E G H	5160	255241				ORPHA	1	538	8806	300502
HP:0001332	HP:0001332	Dystonia	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	530	8806	300502
HP:0001332	HP:0001332	Dystonia	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	538	8806	300502
HP:0001332	HP:0001332	Dystonia	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	229	21350	608769
HP:0001332	HP:0001332	Dystonia	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	264	21350	608769
HP:0001332	HP:0001332	Dystonia	0	PET100 CL E G H	100131801	255241				ORPHA	1	43	40038	614770
HP:0001332	HP:0001332	Dystonia	0	PET100 CL E G H	100131801	255241				ORPHA	1	51	40038	614770
HP:0001332	HP:0001332	Dystonia	0	PINK1 CL E G H	65018	605909	Parkinson disease 6, autosomal recessive early-onset	605909	C1853833	OMIM	1	233	14581	608309
HP:0001332	HP:0001332	Dystonia	0	PINK1 CL E G H	65018	605909	Parkinson disease 6, autosomal recessive early-onset	605909	C1853833	OMIM	1	271	14581	608309
HP:0001332	HP:0001332	Dystonia	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	431	9039	603604
HP:0001332	HP:0001332	Dystonia	0	PLA2G6 CL E G H	8398	610217	Neurodegeneration with brain iron accumulation 2b	610217	C1857747	OMIM	1	513	9039	603604
HP:0001332	HP:0001332	Dystonia	0	PLA2G6 CL E G H	8398	612953	Parkinson disease 14	612953	C2751842	OMIM	1	431	9039	603604
HP:0001332	HP:0001332	Dystonia	0	PLA2G6 CL E G H	8398	612953	Parkinson disease 14	612953	C2751842	OMIM	1	513	9039	603604
HP:0001332	HP:0001332	Dystonia	0	PLAA CL E G H	9373	521426				ORPHA	1	96	9043	603873
HP:0001332	HP:0001332	Dystonia	0	PLAA CL E G H	9373	521426				ORPHA	1	222	9043	603873
HP:0001332	HP:0001332	Dystonia	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	335	9086	300401
HP:0001332	HP:0001332	Dystonia	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	365	9086	300401
HP:0001332	HP:0001332	Dystonia	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	45	9119	603131
HP:0001332	HP:0001332	Dystonia	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	1	53	9119	603131
HP:0001332	HP:0001332	Dystonia	0	PNKP CL E G H	11284	616267	Ataxia-oculomotor apraxia 4	616267	C4225397	OMIM	1	680	9154	605610
HP:0001332	HP:0001332	Dystonia	0	PNKP CL E G H	11284	616267	Ataxia-oculomotor apraxia 4	616267	C4225397	OMIM	1	769	9154	605610
HP:0001332	HP:0001332	Dystonia	0	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	56	28900	612123
HP:0001332	HP:0001332	Dystonia	0	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	68	28900	612123
HP:0001332	HP:0001332	Dystonia	0	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	241	23166	610316
HP:0001332	HP:0001332	Dystonia	0	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	398	23166	610316
HP:0001332	HP:0001332	Dystonia	0	PODXL CL E G H	5420	391411				ORPHA	1	88	9171	602632
HP:0001332	HP:0001332	Dystonia	0	PODXL CL E G H	5420	391411				ORPHA	1	104	9171	602632
HP:0001332	HP:0001332	Dystonia	0	POLR3A CL E G H	11128	447896				ORPHA	1	484	30074	614258
HP:0001332	HP:0001332	Dystonia	0	POLR3A CL E G H	11128	447896				ORPHA	1	654	30074	614258
HP:0001332	HP:0001332	Dystonia	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	484	30074	614258
HP:0001332	HP:0001332	Dystonia	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	654	30074	614258
HP:0001332	HP:0001332	Dystonia	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	297	30348	614366
HP:0001332	HP:0001332	Dystonia	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	326	30348	614366
HP:0001332	HP:0001332	Dystonia	0	PRKN CL E G H	5071	600116	Parkinson disease 2	600116	C1868675	OMIM	1	576	8607	602544
HP:0001332	HP:0001332	Dystonia	0	PRKN CL E G H	5071	600116	Parkinson disease 2	600116	C1868675	OMIM	1	620	8607	602544
HP:0001332	HP:0001332	Dystonia	0	PSAP CL E G H	5660	139406				ORPHA	1	390	9498	176801
HP:0001332	HP:0001332	Dystonia	0	PSAP CL E G H	5660	139406				ORPHA	1	502	9498	176801
HP:0001332	HP:0001332	Dystonia	0	PSAP CL E G H	5660	309256				ORPHA	1	390	9498	176801
HP:0001332	HP:0001332	Dystonia	0	PSAP CL E G H	5660	309256				ORPHA	1	502	9498	176801
HP:0001332	HP:0001332	Dystonia	0	PSAP CL E G H	5660	309263				ORPHA	1	390	9498	176801
HP:0001332	HP:0001332	Dystonia	0	PSAP CL E G H	5660	309263				ORPHA	1	502	9498	176801
HP:0001332	HP:0001332	Dystonia	0	PSAP CL E G H	5660	309271				ORPHA	1	390	9498	176801
HP:0001332	HP:0001332	Dystonia	0	PSAP CL E G H	5660	309271				ORPHA	1	502	9498	176801
HP:0001332	HP:0001332	Dystonia	0	PSEN1 CL E G H	5663	607822	Alzheimer disease, type 3	607822	C1843013	OMIM	1	408	9508	104311
HP:0001332	HP:0001332	Dystonia	0	PSEN1 CL E G H	5663	607822	Alzheimer disease, type 3	607822	C1843013	OMIM	1	431	9508	104311
HP:0001332	HP:0001332	Dystonia	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	164	9689	612719
HP:0001332	HP:0001332	Dystonia	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	185	9689	612719
HP:0001332	HP:0001332	Dystonia	0	QDPR CL E G H	5860	261630	Dihydropteridine reductase deficiency	261630	C0268465	OMIM	1	172	9752	612676
HP:0001332	HP:0001332	Dystonia	0	QDPR CL E G H	5860	261630	Dihydropteridine reductase deficiency	261630	C0268465	OMIM	1	224	9752	612676
HP:0001332	HP:0001332	Dystonia	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	33	9761	604198
HP:0001332	HP:0001332	Dystonia	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	56	9761	604198
HP:0001332	HP:0001332	Dystonia	0	RARS CL E G H	5917	438114				ORPHA	1		9870	107820
HP:0001332	HP:0001332	Dystonia	0	RHOBTB2 CL E G H	23221	618004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	618004	CN248512	OMIM	1	137	18756	607352
HP:0001332	HP:0001332	Dystonia	0	RHOBTB2 CL E G H	23221	618004	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	618004	CN248512	OMIM	1	237	18756	607352
HP:0001332	HP:0001332	Dystonia	0	RNASEH2A CL E G H	10535	51				ORPHA	1	186	18518	606034
HP:0001332	HP:0001332	Dystonia	0	RNASEH2A CL E G H	10535	51				ORPHA	1	259	18518	606034
HP:0001332	HP:0001332	Dystonia	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	186	18518	606034
HP:0001332	HP:0001332	Dystonia	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	259	18518	606034
HP:0001332	HP:0001332	Dystonia	0	RNASEH2B CL E G H	79621	51				ORPHA	1	197	25671	610326
HP:0001332	HP:0001332	Dystonia	0	RNASEH2B CL E G H	79621	51				ORPHA	1	272	25671	610326
HP:0001332	HP:0001332	Dystonia	0	RNASEH2C CL E G H	84153	51				ORPHA	1	147	24116	610330
HP:0001332	HP:0001332	Dystonia	0	RNASEH2C CL E G H	84153	51				ORPHA	1	191	24116	610330
HP:0001332	HP:0001332	Dystonia	0	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	147	24116	610330
HP:0001332	HP:0001332	Dystonia	0	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	191	24116	610330
HP:0001332	HP:0001332	Dystonia	0	SAMHD1 CL E G H	25939	51				ORPHA	1	329	15925	606754
HP:0001332	HP:0001332	Dystonia	0	SAMHD1 CL E G H	25939	51				ORPHA	1	454	15925	606754
HP:0001332	HP:0001332	Dystonia	0	SDHA CL E G H	6389	255241				ORPHA	1	1545	10680	600857
HP:0001332	HP:0001332	Dystonia	0	SDHA CL E G H	6389	255241				ORPHA	1	1778	10680	600857
HP:0001332	HP:0001332	Dystonia	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	1545	10680	600857
HP:0001332	HP:0001332	Dystonia	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	1778	10680	600857
HP:0001332	HP:0001332	Dystonia	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	1545	10680	600857
HP:0001332	HP:0001332	Dystonia	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	1778	10680	600857
HP:0001332	HP:0001332	Dystonia	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	46	33867	612848
HP:0001332	HP:0001332	Dystonia	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	54	33867	612848
HP:0001332	HP:0001332	Dystonia	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	442	10683	602690
HP:0001332	HP:0001332	Dystonia	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	507	10683	602690
HP:0001332	HP:0001332	Dystonia	0	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	249	21061	614725
HP:0001332	HP:0001332	Dystonia	0	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	283	21061	614725
HP:0001332	HP:0001332	Dystonia	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	400	16266	606152
HP:0001332	HP:0001332	Dystonia	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	461	16266	606152
HP:0001332	HP:0001332	Dystonia	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	400	16266	606152
HP:0001332	HP:0001332	Dystonia	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	461	16266	606152
HP:0001332	HP:0001332	Dystonia	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	220	10947	158378
HP:0001332	HP:0001332	Dystonia	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	248	10947	158378
HP:0001332	HP:0001332	Dystonia	0	SLC2A1 CL E G H	6513	53583				ORPHA	1	672	11005	138140
HP:0001332	HP:0001332	Dystonia	0	SLC2A1 CL E G H	6513	53583				ORPHA	1	753	11005	138140
HP:0001332	HP:0001332	Dystonia	0	SLC2A1 CL E G H	6513	71277				ORPHA	1	672	11005	138140
HP:0001332	HP:0001332	Dystonia	0	SLC2A1 CL E G H	6513	71277				ORPHA	1	753	11005	138140
HP:0001332	HP:0001332	Dystonia	0	SLC2A1 CL E G H	6513	601042	Dystonia 9	601042	C1832855	OMIM	1	672	11005	138140
HP:0001332	HP:0001332	Dystonia	0	SLC2A1 CL E G H	6513	601042	Dystonia 9	601042	C1832855	OMIM	1	753	11005	138140
HP:0001332	HP:0001332	Dystonia	0	SLC2A1 CL E G H	6513	612126	GLUT1 deficiency syndrome 2	612126	C1842534	OMIM	1	672	11005	138140
HP:0001332	HP:0001332	Dystonia	0	SLC2A1 CL E G H	6513	612126	GLUT1 deficiency syndrome 2	612126	C1842534	OMIM	1	753	11005	138140
HP:0001332	HP:0001332	Dystonia	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	139	25355	611146
HP:0001332	HP:0001332	Dystonia	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	167	25355	611146
HP:0001332	HP:0001332	Dystonia	0	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	139	25355	611146
HP:0001332	HP:0001332	Dystonia	0	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	167	25355	611146
HP:0001332	HP:0001332	Dystonia	0	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	22	1329	604604
HP:0001332	HP:0001332	Dystonia	0	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	28	1329	604604
HP:0001332	HP:0001332	Dystonia	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	716	11055	300036
HP:0001332	HP:0001332	Dystonia	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	770	11055	300036
HP:0001332	HP:0001332	Dystonia	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	716	11055	300036
HP:0001332	HP:0001332	Dystonia	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	770	11055	300036
HP:0001332	HP:0001332	Dystonia	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	447	11079	300231
HP:0001332	HP:0001332	Dystonia	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	487	11079	300231
HP:0001332	HP:0001332	Dystonia	0	SNCA CL E G H	6622	171695				ORPHA	1	154	11138	163890
HP:0001332	HP:0001332	Dystonia	0	SNCA CL E G H	6622	171695				ORPHA	1	166	11138	163890
HP:0001332	HP:0001332	Dystonia	0	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	154	11138	163890
HP:0001332	HP:0001332	Dystonia	0	SNCA CL E G H	6622	168601	Parkinson disease 1	168601	C1868595	OMIM	1	166	11138	163890
HP:0001332	HP:0001332	Dystonia	0	SNCAIP CL E G H	9627	168600	Parkinson disease, late-onset	168600	C3160718	OMIM	1	116	11139	603779
HP:0001332	HP:0001332	Dystonia	0	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	67	32952	616663
HP:0001332	HP:0001332	Dystonia	0	SNORD118 CL E G H	727676	614561	Leukoencephalopathy, brain calcifications, and cysts	614561	C3281200	OMIM	1	102	32952	616663
HP:0001332	HP:0001332	Dystonia	0	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	128	11257	182125
HP:0001332	HP:0001332	Dystonia	0	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	145	11257	182125
HP:0001332	HP:0001332	Dystonia	0	SQSTM1 CL E G H	8878	617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	617145	C4310693	OMIM	1	383	11280	601530
HP:0001332	HP:0001332	Dystonia	0	SQSTM1 CL E G H	8878	617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	617145	C4310693	OMIM	1	473	11280	601530
HP:0001332	HP:0001332	Dystonia	0	STN1 CL E G H	79991	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	617341	C4479220	OMIM	1	42	26200	613128
HP:0001332	HP:0001332	Dystonia	0	STN1 CL E G H	79991	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	617341	C4479220	OMIM	1	105	26200	613128
HP:0001332	HP:0001332	Dystonia	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	244	11448	603921
HP:0001332	HP:0001332	Dystonia	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	277	11448	603921
HP:0001332	HP:0001332	Dystonia	0	SURF1 CL E G H	6834	255241				ORPHA	1	249	11474	185620
HP:0001332	HP:0001332	Dystonia	0	SURF1 CL E G H	6834	255241				ORPHA	1	313	11474	185620
HP:0001332	HP:0001332	Dystonia	0	SURF1 CL E G H	6834	616684	Charcot-Marie-Tooth disease, type 4k	616684	C4225246	OMIM	1	249	11474	185620
HP:0001332	HP:0001332	Dystonia	0	SURF1 CL E G H	6834	616684	Charcot-Marie-Tooth disease, type 4k	616684	C4225246	OMIM	1	313	11474	185620
HP:0001332	HP:0001332	Dystonia	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	249	11474	185620
HP:0001332	HP:0001332	Dystonia	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	313	11474	185620
HP:0001332	HP:0001332	Dystonia	0	SYNJ1 CL E G H	8867	391411				ORPHA	1	730	11503	604297
HP:0001332	HP:0001332	Dystonia	0	SYNJ1 CL E G H	8867	391411				ORPHA	1	909	11503	604297
HP:0001332	HP:0001332	Dystonia	0	SYNJ1 CL E G H	8867	615530	Parkinson disease 20, early-onset	615530	C3809824	OMIM	1	730	11503	604297
HP:0001332	HP:0001332	Dystonia	0	SYNJ1 CL E G H	8867	615530	Parkinson disease 20, early-onset	615530	C3809824	OMIM	1	909	11503	604297
HP:0001332	HP:0001332	Dystonia	0	SYT1 CL E G H	6857	618218	BAKER-GORDON SYNDROME	618218		OMIM	1	39	11509	185605
HP:0001332	HP:0001332	Dystonia	0	SYT1 CL E G H	6857	618218	BAKER-GORDON SYNDROME	618218		OMIM	1	44	11509	185605
HP:0001332	HP:0001332	Dystonia	0	TACO1 CL E G H	51204	255241				ORPHA	1	70	24316	612958
HP:0001332	HP:0001332	Dystonia	0	TACO1 CL E G H	51204	255241				ORPHA	1	79	24316	612958
HP:0001332	HP:0001332	Dystonia	0	TBC1D24 CL E G H	57465	352596				ORPHA	1	666	29203	613577
HP:0001332	HP:0001332	Dystonia	0	TBC1D24 CL E G H	57465	352596				ORPHA	1	738	29203	613577
HP:0001332	HP:0001332	Dystonia	0	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	666	29203	613577
HP:0001332	HP:0001332	Dystonia	0	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	738	29203	613577
HP:0001332	HP:0001332	Dystonia	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	102	11588	600075
HP:0001332	HP:0001332	Dystonia	0	TBP CL E G H	6908	607136	Spinocerebellar ataxia 17	607136	C1846707	OMIM	1	106	11588	600075
HP:0001332	HP:0001332	Dystonia	0	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	201	11817	300356
HP:0001332	HP:0001332	Dystonia	0	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	211	11817	300356
HP:0001332	HP:0001332	Dystonia	0	TMEM106B CL E G H	54664	617964	LEUKODYSTROPHY, HYPOMYELINATING, 16	617964	CN244907	OMIM	1	62	22407	613413
HP:0001332	HP:0001332	Dystonia	0	TMEM106B CL E G H	54664	617964	LEUKODYSTROPHY, HYPOMYELINATING, 16	617964	CN244907	OMIM	1	74	22407	613413
HP:0001332	HP:0001332	Dystonia	0	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	109	12009	190450
HP:0001332	HP:0001332	Dystonia	0	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	132	12009	190450
HP:0001332	HP:0001332	Dystonia	0	TPK1 CL E G H	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	614458	C3280866	OMIM	1	221	17358	606370
HP:0001332	HP:0001332	Dystonia	0	TPK1 CL E G H	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	614458	C3280866	OMIM	1	250	17358	606370
HP:0001332	HP:0001332	Dystonia	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	573	25751	614138
HP:0001332	HP:0001332	Dystonia	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	673	25751	614138
HP:0001332	HP:0001332	Dystonia	0	TRAPPC12 CL E G H	51112	617669	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	617669	C4540059	OMIM	1	62	24284	614139
HP:0001332	HP:0001332	Dystonia	0	TRAPPC12 CL E G H	51112	617669	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	617669	C4540059	OMIM	1	78	24284	614139
HP:0001332	HP:0001332	Dystonia	0	TREX1 CL E G H	11277	51				ORPHA	1	198	12269	606609
HP:0001332	HP:0001332	Dystonia	0	TREX1 CL E G H	11277	51				ORPHA	1	289	12269	606609
HP:0001332	HP:0001332	Dystonia	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	198	12269	606609
HP:0001332	HP:0001332	Dystonia	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	1	289	12269	606609
HP:0001332	HP:0001332	Dystonia	0	TRIT1 CL E G H	54802	617873	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	617873	CN807948	OMIM	1	54	20286	617840
HP:0001332	HP:0001332	Dystonia	0	TRIT1 CL E G H	54802	617873	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	617873	CN807948	OMIM	1	59	20286	617840
HP:0001332	HP:0001332	Dystonia	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	208	28422	608753
HP:0001332	HP:0001332	Dystonia	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	228	28422	608753
HP:0001332	HP:0001332	Dystonia	0	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	132	15506	608754
HP:0001332	HP:0001332	Dystonia	0	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	140	15506	608754
HP:0001332	HP:0001332	Dystonia	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	183	12367	604723
HP:0001332	HP:0001332	Dystonia	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	244	12367	604723
HP:0001332	HP:0001332	Dystonia	0	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	1	236	26006	613814
HP:0001332	HP:0001332	Dystonia	0	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	1	249	26006	613814
HP:0001332	HP:0001332	Dystonia	0	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	168	20774	602662
HP:0001332	HP:0001332	Dystonia	0	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	181	20774	602662
HP:0001332	HP:0001332	Dystonia	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	46	17772	609063
HP:0001332	HP:0001332	Dystonia	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	50	17772	609063
HP:0001332	HP:0001332	Dystonia	0	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	58	23230	610552
HP:0001332	HP:0001332	Dystonia	0	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	109	23230	610552
HP:0001332	HP:0001332	Dystonia	0	UBQLN2 CL E G H	29978	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	300857	C3275459	OMIM	1	200	12509	300264
HP:0001332	HP:0001332	Dystonia	0	UBQLN2 CL E G H	29978	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	300857	C3275459	OMIM	1	217	12509	300264
HP:0001332	HP:0001332	Dystonia	0	UBTF CL E G H	7343	617672	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY	617672	C4540086	OMIM	1	47	12511	600673
HP:0001332	HP:0001332	Dystonia	0	UBTF CL E G H	7343	617672	NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY	617672	C4540086	OMIM	1	52	12511	600673
HP:0001332	HP:0001332	Dystonia	0	UFM1 CL E G H	51569	617899	LEUKODYSTROPHY, HYPOMYELINATING, 14	617899	CN845004	OMIM	1	49	20597	610553
HP:0001332	HP:0001332	Dystonia	0	UFM1 CL E G H	51569	617899	LEUKODYSTROPHY, HYPOMYELINATING, 14	617899	CN845004	OMIM	1	55	20597	610553
HP:0001332	HP:0001332	Dystonia	0	UPB1 CL E G H	51733	613161	Deficiency of beta-ureidopropionase	613161	C1291512	OMIM	1	180	16297	606673
HP:0001332	HP:0001332	Dystonia	0	UPB1 CL E G H	51733	613161	Deficiency of beta-ureidopropionase	613161	C1291512	OMIM	1	192	16297	606673
HP:0001332	HP:0001332	Dystonia	0	UQCRQ CL E G H	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	615159	C3554607	OMIM	1	89	29594	612080
HP:0001332	HP:0001332	Dystonia	0	UQCRQ CL E G H	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	615159	C3554607	OMIM	1	90	29594	612080
HP:0001332	HP:0001332	Dystonia	0	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	83	12642	185880
HP:0001332	HP:0001332	Dystonia	0	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	99	12642	185880
HP:0001332	HP:0001332	Dystonia	0	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	356	12666	601023
HP:0001332	HP:0001332	Dystonia	0	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	395	12666	601023
HP:0001332	HP:0001332	Dystonia	0	VPS13A CL E G H	23230	2388				ORPHA	1	1246	1908	605978
HP:0001332	HP:0001332	Dystonia	0	VPS13A CL E G H	23230	2388				ORPHA	1	1374	1908	605978
HP:0001332	HP:0001332	Dystonia	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	1246	1908	605978
HP:0001332	HP:0001332	Dystonia	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	1374	1908	605978
HP:0001332	HP:0001332	Dystonia	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	191	23595	608877
HP:0001332	HP:0001332	Dystonia	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	266	23595	608877
HP:0001332	HP:0001332	Dystonia	0	WARS2 CL E G H	10352	617710	NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES	617710	C4540192	OMIM	1	52	12730	604733
HP:0001332	HP:0001332	Dystonia	0	WARS2 CL E G H	10352	617710	NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES	617710	C4540192	OMIM	1	65	12730	604733
HP:0001332	HP:0001332	Dystonia	0	WDR45 CL E G H	11152	329284				ORPHA	1	431	28912	300526
HP:0001332	HP:0001332	Dystonia	0	WDR45 CL E G H	11152	329284				ORPHA	1	464	28912	300526
HP:0001332	HP:0001332	Dystonia	0	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	431	28912	300526
HP:0001332	HP:0001332	Dystonia	0	WDR45 CL E G H	11152	300894	Neurodegeneration with brain iron accumulation 5	300894	C3550973	OMIM	1	464	28912	300526
HP:0001332	HP:0001332	Dystonia	0	YY1 CL E G H	7528	617557	GABRIELE-DE VRIES SYNDROME	617557	C4479652	OMIM	1	72	12856	600013
HP:0001332	HP:0001332	Dystonia	0	YY1 CL E G H	7528	617557	GABRIELE-DE VRIES SYNDROME	617557	C4479652	OMIM	1	79	12856	600013
HP:0001332	HP:0001332	Dystonia	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	217	24931	300897
HP:0001332	HP:0001332	Dystonia	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	223	24931	300897
HP:0001332	HP:0002530	Axial dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0002530	Axial dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0004373	Focal dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0004373	Focal dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0007325	Generalized dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0007325	Generalized dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0032005	Hemidystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0032005	Hemidystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0002451	Limb dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0002451	Limb dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0010553	Oculogyric crisis	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0010553	Oculogyric crisis	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0002268	Paroxysmal dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0002268	Paroxysmal dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0001304	Torsion dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001332	HP:0001304	Torsion dystonia	1	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001332	HP:0002530	Axial dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0002530	Axial dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0004373	Focal dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0004373	Focal dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0007325	Generalized dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0007325	Generalized dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0032005	Hemidystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0032005	Hemidystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0002451	Limb dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0002451	Limb dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0010553	Oculogyric crisis	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0010553	Oculogyric crisis	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0001304	Torsion dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	27	16066	617036
HP:0001332	HP:0001304	Torsion dystonia	1	ACER3 CL E G H	55331	617762	LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	617762	C4540358	OMIM	1	38	16066	617036
HP:0001332	HP:0002530	Axial dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0002530	Axial dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0004373	Focal dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0004373	Focal dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0007325	Generalized dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0007325	Generalized dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0032005	Hemidystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0032005	Hemidystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0002451	Limb dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0002451	Limb dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0010553	Oculogyric crisis	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0010553	Oculogyric crisis	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0001304	Torsion dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	388	119	609751
HP:0001332	HP:0001304	Torsion dystonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	435	119	609751
HP:0001332	HP:0002530	Axial dystonia	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0002530	Axial dystonia	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0004373	Focal dystonia	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0004373	Focal dystonia	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0007325	Generalized dystonia	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0007325	Generalized dystonia	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0032005	Hemidystonia	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0032005	Hemidystonia	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0002451	Limb dystonia	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0002451	Limb dystonia	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0010553	Oculogyric crisis	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0010553	Oculogyric crisis	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0001304	Torsion dystonia	1	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0001332	HP:0001304	Torsion dystonia	1	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0001332	HP:0002530	Axial dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0002530	Axial dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0004373	Focal dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0004373	Focal dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0007325	Generalized dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0007325	Generalized dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0032005	Hemidystonia	1	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0032005	Hemidystonia	1	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0002451	Limb dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0002451	Limb dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0010553	Oculogyric crisis	1	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0010553	Oculogyric crisis	1	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0001304	Torsion dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	471	225	146920
HP:0001332	HP:0001304	Torsion dystonia	1	ADAR CL E G H	103	225154				ORPHA	1	654	225	146920
HP:0001332	HP:0002530	Axial dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0002530	Axial dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0004373	Focal dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0004373	Focal dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0007325	Generalized dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0007325	Generalized dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0032005	Hemidystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0032005	Hemidystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0002451	Limb dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0002451	Limb dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0010553	Oculogyric crisis	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0010553	Oculogyric crisis	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0001304	Torsion dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	471	225	146920
HP:0001332	HP:0001304	Torsion dystonia	1	ADAR CL E G H	103	615010	Aicardi-Goutieres syndrome 6	615010	C3539013	OMIM	1	654	225	146920
HP:0001332	HP:0002530	Axial dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0002530	Axial dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0004373	Focal dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0004373	Focal dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0007325	Generalized dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0007325	Generalized dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0032005	Hemidystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0032005	Hemidystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0002451	Limb dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0002451	Limb dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0010553	Oculogyric crisis	1	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0010553	Oculogyric crisis	1	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0001304	Torsion dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	293	236	600293
HP:0001332	HP:0001304	Torsion dystonia	1	ADCY5 CL E G H	111	324588				ORPHA	1	365	236	600293
HP:0001332	HP:0002530	Axial dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0002530	Axial dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0004373	Focal dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0004373	Focal dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0007325	Generalized dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0007325	Generalized dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0032005	Hemidystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0032005	Hemidystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0002451	Limb dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0002451	Limb dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0010553	Oculogyric crisis	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0010553	Oculogyric crisis	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0002268	Paroxysmal dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0001304	Torsion dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	293	236	600293
HP:0001332	HP:0001304	Torsion dystonia	1	ADCY5 CL E G H	111	606703	Dyskinesia, familial, with facial myokymia	606703	C1847627	OMIM	1	365	236	600293
HP:0001332	HP:0002530	Axial dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0002530	Axial dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0004373	Focal dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0004373	Focal dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0007325	Generalized dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0007325	Generalized dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0032005	Hemidystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0032005	Hemidystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0002451	Limb dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0002451	Limb dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0010553	Oculogyric crisis	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0010553	Oculogyric crisis	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0002268	Paroxysmal dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0002268	Paroxysmal dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0001304	Torsion dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	349	315	604581
HP:0001332	HP:0001304	Torsion dystonia	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	357	315	604581
HP:0001332	HP:0002530	Axial dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0002530	Axial dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0004373	Focal dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0004373	Focal dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0007325	Generalized dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0007325	Generalized dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0032005	Hemidystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0032005	Hemidystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0002451	Limb dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0002451	Limb dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0010553	Oculogyric crisis	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0010553	Oculogyric crisis	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0002268	Paroxysmal dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0002268	Paroxysmal dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0001304	Torsion dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	349	315	604581
HP:0001332	HP:0001304	Torsion dystonia	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	357	315	604581
HP:0001332	HP:0002530	Axial dystonia	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	133	7179	603178
HP:0001332	HP:0002530	Axial dystonia	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	146	7179	603178
HP:0001332	HP:0004373	Focal dystonia	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	133	7179	603178
HP:0001332	HP:0004373	Focal dystonia	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	146	7179	603178
HP:0001332	HP:0007325	Generalized dystonia	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	133	7179	603178
HP:0001332	HP:0007325	Generalized dystonia	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	146	7179	603178
HP:0001332	HP:0032005	Hemidystonia	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	133	7179	603178
HP:0001332	HP:0032005	Hemidystonia	1	ALDH6A1 CL E