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:0001251	HP:0001251	Ataxia	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	162	13666	605378
HP:0001251	HP:0001251	Ataxia	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	174	13666	605378
HP:0001251	HP:0001251	Ataxia	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	338	21022	612035
HP:0001251	HP:0001251	Ataxia	0	AARS2 CL E G H	57505	615889	Leukoencephalopathy, progressive, with ovarian failure	615889	C4014588	OMIM	1	387	21022	612035
HP:0001251	HP:0001251	Ataxia	0	ABCB7 CL E G H	22	2802				ORPHA	1	246	48	300135
HP:0001251	HP:0001251	Ataxia	0	ABCB7 CL E G H	22	2802				ORPHA	1	251	48	300135
HP:0001251	HP:0001251	Ataxia	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1125	59	600509
HP:0001251	HP:0001251	Ataxia	0	ABCC8 CL E G H	6833	240800	Leucine-induced hypoglycemia	240800	C0271714	OMIM	1	1253	59	600509
HP:0001251	HP:0001251	Ataxia	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	314	15868	613599
HP:0001251	HP:0001251	Ataxia	0	ABHD12 CL E G H	26090	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674	C2675204	OMIM	1	389	15868	613599
HP:0001251	HP:0001251	Ataxia	0	ABHD5 CL E G H	51099	98907				ORPHA	1	173	21396	604780
HP:0001251	HP:0001251	Ataxia	0	ABHD5 CL E G H	51099	98907				ORPHA	1	184	21396	604780
HP:0001251	HP:0001251	Ataxia	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	173	21396	604780
HP:0001251	HP:0001251	Ataxia	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	184	21396	604780
HP:0001251	HP:0001251	Ataxia	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	284	118	100850
HP:0001251	HP:0001251	Ataxia	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	410	118	100850
HP:0001251	HP:0001251	Ataxia	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	310	1839	607575
HP:0001251	HP:0001251	Ataxia	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	390	1839	607575
HP:0001251	HP:0001251	Ataxia	0	AGRN CL E G H	375790	98914				ORPHA	1	1309	329	103320
HP:0001251	HP:0001251	Ataxia	0	AGRN CL E G H	375790	98914				ORPHA	1	1579	329	103320
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	220493				ORPHA	1	650	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	220493				ORPHA	1	827	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	650	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	827	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	650	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	827	21575	608894
HP:0001251	HP:0001251	Ataxia	0	AKT1 CL E G H	207	201				ORPHA	1	380	391	164730
HP:0001251	HP:0001251	Ataxia	0	AKT1 CL E G H	207	201				ORPHA	1	417	391	164730
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	472	408	610045
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	537	408	610045
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	472	408	610045
HP:0001251	HP:0001251	Ataxia	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	537	408	610045
HP:0001251	HP:0001251	Ataxia	0	ALG6 CL E G H	29929	603147	Congenital disorder of glycosylation type 1C	603147	C2930997	OMIM	1	314	23157	604566
HP:0001251	HP:0001251	Ataxia	0	ALG6 CL E G H	29929	603147	Congenital disorder of glycosylation type 1C	603147	C2930997	OMIM	1	404	23157	604566
HP:0001251	HP:0001251	Ataxia	0	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	392	6211	300836
HP:0001251	HP:0001251	Ataxia	0	ANOS1 CL E G H	3730	308700	Kallmann syndrome 1	308700	C1563719	OMIM	1	419	6211	300836
HP:0001251	HP:0001251	Ataxia	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	713	22197	613653
HP:0001251	HP:0001251	Ataxia	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	780	22197	613653
HP:0001251	HP:0001251	Ataxia	0	APOB CL E G H	338	615558	Hypobetalipoproteinemia, familial, 1	615558	CN182502	OMIM	1	2340	603	107730
HP:0001251	HP:0001251	Ataxia	0	APOB CL E G H	338	615558	Hypobetalipoproteinemia, familial, 1	615558	CN182502	OMIM	1	2465	603	107730
HP:0001251	HP:0001251	Ataxia	0	APOPT1 CL E G H	84334	436271				ORPHA	1	125	20492	616003
HP:0001251	HP:0001251	Ataxia	0	APOPT1 CL E G H	84334	436271				ORPHA	1	129	20492	616003
HP:0001251	HP:0001251	Ataxia	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	125	20492	616003
HP:0001251	HP:0001251	Ataxia	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	129	20492	616003
HP:0001251	HP:0001251	Ataxia	0	APTX CL E G H	54840	1168				ORPHA	1	236	15984	606350
HP:0001251	HP:0001251	Ataxia	0	APTX CL E G H	54840	1168				ORPHA	1	258	15984	606350
HP:0001251	HP:0001251	Ataxia	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	236	15984	606350
HP:0001251	HP:0001251	Ataxia	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	258	15984	606350
HP:0001251	HP:0001251	Ataxia	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	184	25419	608922
HP:0001251	HP:0001251	Ataxia	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	222	25419	608922
HP:0001251	HP:0001251	Ataxia	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	184	25419	608922
HP:0001251	HP:0001251	Ataxia	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	222	25419	608922
HP:0001251	HP:0001251	Ataxia	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	64	694	604695
HP:0001251	HP:0001251	Ataxia	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	90	694	604695
HP:0001251	HP:0001251	Ataxia	0	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	64	694	604695
HP:0001251	HP:0001251	Ataxia	0	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	90	694	604695
HP:0001251	HP:0001251	Ataxia	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	251	20730	617612
HP:0001251	HP:0001251	Ataxia	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	380	20730	617612
HP:0001251	HP:0001251	Ataxia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	732	713	607574
HP:0001251	HP:0001251	Ataxia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	841	713	607574
HP:0001251	HP:0001251	Ataxia	0	ARSG CL E G H	22901	231183				ORPHA	1	174	24102	610008
HP:0001251	HP:0001251	Ataxia	0	ARSG CL E G H	22901	231183				ORPHA	1	250	24102	610008
HP:0001251	HP:0001251	Ataxia	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	62	29561	611647
HP:0001251	HP:0001251	Ataxia	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	65	29561	611647
HP:0001251	HP:0001251	Ataxia	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	423	746	608310
HP:0001251	HP:0001251	Ataxia	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	469	746	608310
HP:0001251	HP:0001251	Ataxia	0	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	423	746	608310
HP:0001251	HP:0001251	Ataxia	0	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	469	746	608310
HP:0001251	HP:0001251	Ataxia	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	481	758	603470
HP:0001251	HP:0001251	Ataxia	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	517	758	603470
HP:0001251	HP:0001251	Ataxia	0	ATAD1 CL E G H	84896	3197	Lateral body wall defect			ORPHA	1	27	25903	614452
HP:0001251	HP:0001251	Ataxia	0	ATAD1 CL E G H	84896	3197	Lateral body wall defect			ORPHA	1	76	25903	614452
HP:0001251	HP:0001251	Ataxia	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	250	25567	612316
HP:0001251	HP:0001251	Ataxia	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	264	25567	612316
HP:0001251	HP:0001251	Ataxia	0	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0001251	HP:0001251	Ataxia	0	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0001251	HP:0001251	Ataxia	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	10320	795	607585
HP:0001251	HP:0001251	Ataxia	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	11382	795	607585
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	487	30213	610513
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	606693	Parkinson disease 9	606693	C1847640	OMIM	1	609	30213	610513
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	487	30213	610513
HP:0001251	HP:0001251	Ataxia	0	ATP13A2 CL E G H	23400	617225	Spastic paraplegia 78, autosomal recessive	617225	C4310662	OMIM	1	609	30213	610513
HP:0001251	HP:0001251	Ataxia	0	ATP1A2 CL E G H	477	569				ORPHA	1	726	800	182340
HP:0001251	HP:0001251	Ataxia	0	ATP1A2 CL E G H	477	569				ORPHA	1	801	800	182340
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	1171				ORPHA	1	625	801	182350
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	1171				ORPHA	1	687	801	182350
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	625	801	182350
HP:0001251	HP:0001251	Ataxia	0	ATP1A3 CL E G H	478	614820	Alternating hemiplegia of childhood 2	614820	C3553788	OMIM	1	687	801	182350
HP:0001251	HP:0001251	Ataxia	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	292	816	300014
HP:0001251	HP:0001251	Ataxia	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	300	816	300014
HP:0001251	HP:0001251	Ataxia	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	126	13533	605870
HP:0001251	HP:0001251	Ataxia	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	193	13533	605870
HP:0001251	HP:0001251	Ataxia	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	209	18802	608918
HP:0001251	HP:0001251	Ataxia	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	219	18802	608918
HP:0001251	HP:0001251	Ataxia	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	145	890	600529
HP:0001251	HP:0001251	Ataxia	0	AUH CL E G H	549	250950	3-Methylglutaconic aciduria type 1	250950	C0342727	OMIM	1	177	890	600529
HP:0001251	HP:0001251	Ataxia	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	196	24123	614144
HP:0001251	HP:0001251	Ataxia	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	230	24123	614144
HP:0001251	HP:0001251	Ataxia	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	196	24123	614144
HP:0001251	HP:0001251	Ataxia	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	230	24123	614144
HP:0001251	HP:0001251	Ataxia	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	491	966	209901
HP:0001251	HP:0001251	Ataxia	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	582	966	209901
HP:0001251	HP:0001251	Ataxia	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	384	986	608348
HP:0001251	HP:0001251	Ataxia	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	413	986	608348
HP:0001251	HP:0001251	Ataxia	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	448	987	248611
HP:0001251	HP:0001251	Ataxia	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	478	987	248611
HP:0001251	HP:0001251	Ataxia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	249	1020	603647
HP:0001251	HP:0001251	Ataxia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	279	1020	603647
HP:0001251	HP:0001251	Ataxia	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	249	1020	603647
HP:0001251	HP:0001251	Ataxia	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	279	1020	603647
HP:0001251	HP:0001251	Ataxia	0	BEAN1 CL E G H	146227	117210	Spinocerebellar ataxia 31	117210	C1861736	OMIM	1	35	24160	612051
HP:0001251	HP:0001251	Ataxia	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	330	15832	606158
HP:0001251	HP:0001251	Ataxia	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	1	373	15832	606158
HP:0001251	HP:0001251	Ataxia	0	BTD CL E G H	686	79241				ORPHA	1	366	1122	609019
HP:0001251	HP:0001251	Ataxia	0	BTD CL E G H	686	79241				ORPHA	1	409	1122	609019
HP:0001251	HP:0001251	Ataxia	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	366	1122	609019
HP:0001251	HP:0001251	Ataxia	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	409	1122	609019
HP:0001251	HP:0001251	Ataxia	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0001251	HP:0001251	Ataxia	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	240	25443	614297
HP:0001251	HP:0001251	Ataxia	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	248	25443	614297
HP:0001251	HP:0001251	Ataxia	0	C9orf72 CL E G H	203228	401901				ORPHA	1	161	28337	614260
HP:0001251	HP:0001251	Ataxia	0	C9orf72 CL E G H	203228	401901				ORPHA	1	165	28337	614260
HP:0001251	HP:0001251	Ataxia	0	CA8 CL E G H	767	1766				ORPHA	1	77	1382	114815
HP:0001251	HP:0001251	Ataxia	0	CA8 CL E G H	767	1766				ORPHA	1	83	1382	114815
HP:0001251	HP:0001251	Ataxia	0	CA8 CL E G H	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	613227	C2750509	OMIM	1	77	1382	114815
HP:0001251	HP:0001251	Ataxia	0	CA8 CL E G H	767	613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	613227	C2750509	OMIM	1	83	1382	114815
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	97				ORPHA	1	2047	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	97				ORPHA	1	2326	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	569				ORPHA	1	2047	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	569				ORPHA	1	2326	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	71518				ORPHA	1	2047	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	71518				ORPHA	1	2326	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	2047	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	2326	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2047	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CACNA1A CL E G H	773	141500	Familial hemiplegic migraine type 1	141500	C1832884	OMIM	1	2326	1388	601011
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	2318				ORPHA	1	881	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	2318				ORPHA	1	1064	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	881	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1064	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	881	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1064	29253	612013
HP:0001251	HP:0001251	Ataxia	0	CDH23 CL E G H	64072	231169				ORPHA	1	2612	13733	605516
HP:0001251	HP:0001251	Ataxia	0	CDH23 CL E G H	64072	231169				ORPHA	1	3075	13733	605516
HP:0001251	HP:0001251	Ataxia	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	354	24866	616690
HP:0001251	HP:0001251	Ataxia	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	384	24866	616690
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	220493				ORPHA	1	210	26690	613446
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	220493				ORPHA	1	250	26690	613446
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	210	26690	613446
HP:0001251	HP:0001251	Ataxia	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	250	26690	613446
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	2318				ORPHA	1	1535	29021	610142
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	2318				ORPHA	1	1902	29021	610142
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	1535	29021	610142
HP:0001251	HP:0001251	Ataxia	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	1902	29021	610142
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	220493				ORPHA	1	297	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	220493				ORPHA	1	347	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	297	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	347	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	297	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	347	12370	610523
HP:0001251	HP:0001251	Ataxia	0	CEP78 CL E G H	84131	231183				ORPHA	1	285	25740	617110
HP:0001251	HP:0001251	Ataxia	0	CEP78 CL E G H	84131	231183				ORPHA	1	389	25740	617110
HP:0001251	HP:0001251	Ataxia	0	CHAT CL E G H	1103	98914				ORPHA	1	511	1912	118490
HP:0001251	HP:0001251	Ataxia	0	CHAT CL E G H	1103	98914				ORPHA	1	652	1912	118490
HP:0001251	HP:0001251	Ataxia	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	205	15559	615903
HP:0001251	HP:0001251	Ataxia	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	1	230	15559	615903
HP:0001251	HP:0001251	Ataxia	0	CHD2 CL E G H	1106	1942				ORPHA	1	1163	1917	602119
HP:0001251	HP:0001251	Ataxia	0	CHD2 CL E G H	1106	1942				ORPHA	1	1326	1917	602119
HP:0001251	HP:0001251	Ataxia	0	CIB2 CL E G H	10518	231169				ORPHA	1	137	24579	605564
HP:0001251	HP:0001251	Ataxia	0	CIB2 CL E G H	10518	231169				ORPHA	1	163	24579	605564
HP:0001251	HP:0001251	Ataxia	0	CISD2 CL E G H	493856	3463				ORPHA	1	26	24212	611507
HP:0001251	HP:0001251	Ataxia	0	CISD2 CL E G H	493856	3463				ORPHA	1	38	24212	611507
HP:0001251	HP:0001251	Ataxia	0	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	449	2076	608102
HP:0001251	HP:0001251	Ataxia	0	CLN5 CL E G H	1203	256731	Ceroid lipofuscinosis neuronal 5	256731	C1850442	OMIM	1	509	2076	608102
HP:0001251	HP:0001251	Ataxia	0	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	463	2077	606725
HP:0001251	HP:0001251	Ataxia	0	CLN6 CL E G H	54982	204300	Adult neuronal ceroid lipofuscinosis	204300	C0022797	OMIM	1	510	2077	606725
HP:0001251	HP:0001251	Ataxia	0	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	431	2079	607837
HP:0001251	HP:0001251	Ataxia	0	CLN8 CL E G H	2055	600143	Ceroid lipofuscinosis neuronal 8	600143	C1838570	OMIM	1	483	2079	607837
HP:0001251	HP:0001251	Ataxia	0	CLRN1 CL E G H	7401	231183				ORPHA	1	242	12605	606397
HP:0001251	HP:0001251	Ataxia	0	CLRN1 CL E G H	7401	231183				ORPHA	1	272	12605	606397
HP:0001251	HP:0001251	Ataxia	0	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	102	2092	118955
HP:0001251	HP:0001251	Ataxia	0	CLTC CL E G H	1213	617854	MENTAL RETARDATION, AUTOSOMAL DOMINANT 56	617854	CN787270	OMIM	1	202	2092	118955
HP:0001251	HP:0001251	Ataxia	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	1339	13830	604569
HP:0001251	HP:0001251	Ataxia	0	CNTNAP2 CL E G H	26047	610042	Pitt-Hopkins-like syndrome 1	610042	C2750246	OMIM	1	1505	13830	604569
HP:0001251	HP:0001251	Ataxia	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	27	25716	615623
HP:0001251	HP:0001251	Ataxia	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	31	25716	615623
HP:0001251	HP:0001251	Ataxia	0	COG4 CL E G H	25839	263501				ORPHA	1	221	18620	606976
HP:0001251	HP:0001251	Ataxia	0	COG4 CL E G H	25839	263501				ORPHA	1	247	18620	606976
HP:0001251	HP:0001251	Ataxia	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	221	18620	606976
HP:0001251	HP:0001251	Ataxia	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	247	18620	606976
HP:0001251	HP:0001251	Ataxia	0	COL13A1 CL E G H	1305	98914				ORPHA	1	179	2190	120350
HP:0001251	HP:0001251	Ataxia	0	COL13A1 CL E G H	1305	98914				ORPHA	1	294	2190	120350
HP:0001251	HP:0001251	Ataxia	0	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	761	2195	120328
HP:0001251	HP:0001251	Ataxia	0	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	1497	2195	120328
HP:0001251	HP:0001251	Ataxia	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	137	25223	609825
HP:0001251	HP:0001251	Ataxia	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	171	25223	609825
HP:0001251	HP:0001251	Ataxia	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	367	16812	606980
HP:0001251	HP:0001251	Ataxia	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	435	16812	606980
HP:0001251	HP:0001251	Ataxia	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	247	2260	602125
HP:0001251	HP:0001251	Ataxia	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	263	2260	602125
HP:0001251	HP:0001251	Ataxia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	247	2260	602125
HP:0001251	HP:0001251	Ataxia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	263	2260	602125
HP:0001251	HP:0001251	Ataxia	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	24	28216	614478
HP:0001251	HP:0001251	Ataxia	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0001251	HP:0001251	Ataxia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	216	2263	603646
HP:0001251	HP:0001251	Ataxia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	233	2263	603646
HP:0001251	HP:0001251	Ataxia	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	139	26970	614698
HP:0001251	HP:0001251	Ataxia	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	155	26970	614698
HP:0001251	HP:0001251	Ataxia	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	44	2280	124089
HP:0001251	HP:0001251	Ataxia	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0001251	HP:0001251	Ataxia	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	18	2294	123870
HP:0001251	HP:0001251	Ataxia	0	CP CL E G H	1356	48818				ORPHA	1	466	2295	117700
HP:0001251	HP:0001251	Ataxia	0	CP CL E G H	1356	48818				ORPHA	1	571	2295	117700
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	824	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	1239	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	824	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	1239	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	614615	Joubert syndrome 17	614615	C3553264	OMIM	1	824	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPLANE1 CL E G H	65250	614615	Joubert syndrome 17	614615	C3553264	OMIM	1	1239	25801	614571
HP:0001251	HP:0001251	Ataxia	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	814	2323	608307
HP:0001251	HP:0001251	Ataxia	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	1	910	2323	608307
HP:0001251	HP:0001251	Ataxia	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	476	26193	611654
HP:0001251	HP:0001251	Ataxia	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	687	26193	611654
HP:0001251	HP:0001251	Ataxia	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	476	26193	611654
HP:0001251	HP:0001251	Ataxia	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	687	26193	611654
HP:0001251	HP:0001251	Ataxia	0	CSTB CL E G H	1476	254800	Unverricht-Lundborg syndrome	254800	C0751785	OMIM	1	224	2482	601145
HP:0001251	HP:0001251	Ataxia	0	CSTB CL E G H	1476	254800	Unverricht-Lundborg syndrome	254800	C0751785	OMIM	1	241	2482	601145
HP:0001251	HP:0001251	Ataxia	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	729	26169	613129
HP:0001251	HP:0001251	Ataxia	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	918	26169	613129
HP:0001251	HP:0001251	Ataxia	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	323	2498	604927
HP:0001251	HP:0001251	Ataxia	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	348	2498	604927
HP:0001251	HP:0001251	Ataxia	0	CTNNA2 CL E G H	1496	618174	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9	618174		OMIM	1	90	2510	114025
HP:0001251	HP:0001251	Ataxia	0	CTNNA2 CL E G H	1496	618174	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9	618174		OMIM	1	93	2510	114025
HP:0001251	HP:0001251	Ataxia	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	413	2529	116840
HP:0001251	HP:0001251	Ataxia	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	465	2529	116840
HP:0001251	HP:0001251	Ataxia	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	129	2531	603539
HP:0001251	HP:0001251	Ataxia	0	CTSF CL E G H	8722	615362	Ceroid lipofuscinosis, neuronal, 13	615362	C3715049	OMIM	1	140	2531	603539
HP:0001251	HP:0001251	Ataxia	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	439	2605	606530
HP:0001251	HP:0001251	Ataxia	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	599	2605	606530
HP:0001251	HP:0001251	Ataxia	0	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	80	2661	603448
HP:0001251	HP:0001251	Ataxia	0	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	81	2661	603448
HP:0001251	HP:0001251	Ataxia	0	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	236	25538	610956
HP:0001251	HP:0001251	Ataxia	0	DARS2 CL E G H	55157	611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	611105	C1970180	OMIM	1	266	25538	610956
HP:0001251	HP:0001251	Ataxia	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	467	2698	248610
HP:0001251	HP:0001251	Ataxia	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	511	2698	248610
HP:0001251	HP:0001251	Ataxia	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	357	2714	300121
HP:0001251	HP:0001251	Ataxia	0	DCX CL E G H	1641	300067	Lissencephaly, X-linked	300067	C1848199	OMIM	1	368	2714	300121
HP:0001251	HP:0001251	Ataxia	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	277	2861	126060
HP:0001251	HP:0001251	Ataxia	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	343	2861	126060
HP:0001251	HP:0001251	Ataxia	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:0001251	HP:0001251	Ataxia	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:0001251	HP:0001251	Ataxia	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	168	2896	608770
HP:0001251	HP:0001251	Ataxia	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	199	2896	608770
HP:0001251	HP:0001251	Ataxia	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	329	2898	238331
HP:0001251	HP:0001251	Ataxia	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	355	2898	238331
HP:0001251	HP:0001251	Ataxia	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	161	2938	612186
HP:0001251	HP:0001251	Ataxia	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	306	2938	612186
HP:0001251	HP:0001251	Ataxia	0	DNAJC19 CL E G H	131118	66634				ORPHA	1	78	30528	608977
HP:0001251	HP:0001251	Ataxia	0	DNAJC19 CL E G H	131118	66634				ORPHA	1	95	30528	608977
HP:0001251	HP:0001251	Ataxia	0	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	340	16235	611203
HP:0001251	HP:0001251	Ataxia	0	DNAJC5 CL E G H	80331	162350	Ceroid lipofuscinosis neuronal 4B autosomal dominant	162350	C1834207	OMIM	1	359	16235	611203
HP:0001251	HP:0001251	Ataxia	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	749	2976	126375
HP:0001251	HP:0001251	Ataxia	0	DNMT1 CL E G H	1786	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121	C1858804	OMIM	1	832	2976	126375
HP:0001251	HP:0001251	Ataxia	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	156	3005	603503
HP:0001251	HP:0001251	Ataxia	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	188	3005	603503
HP:0001251	HP:0001251	Ataxia	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	233	3180	131244
HP:0001251	HP:0001251	Ataxia	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	258	3180	131244
HP:0001251	HP:0001251	Ataxia	0	ELP1 CL E G H	8518	1764				ORPHA	1	1054	5959	603722
HP:0001251	HP:0001251	Ataxia	0	ELP1 CL E G H	8518	1764				ORPHA	1	1181	5959	603722
HP:0001251	HP:0001251	Ataxia	0	EPRS CL E G H	2058	617951	LEUKODYSTROPHY, HYPOMYELINATING, 15	617951	CN244566	OMIM	1		3418	138295
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	220295				ORPHA	1	360	3434	126340
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	220295				ORPHA	1	479	3434	126340
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	360	3434	126340
HP:0001251	HP:0001251	Ataxia	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	479	3434	126340
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	220295				ORPHA	1	186	3435	133510
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	220295				ORPHA	1	283	3435	133510
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	186	3435	133510
HP:0001251	HP:0001251	Ataxia	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	283	3435	133510
HP:0001251	HP:0001251	Ataxia	0	ERCC4 CL E G H	2072	220295				ORPHA	1	469	3436	133520
HP:0001251	HP:0001251	Ataxia	0	ERCC4 CL E G H	2072	220295				ORPHA	1	538	3436	133520
HP:0001251	HP:0001251	Ataxia	0	ERCC5 CL E G H	2073	220295				ORPHA	1	361	3437	133530
HP:0001251	HP:0001251	Ataxia	0	ERCC5 CL E G H	2073	220295				ORPHA	1	374	3437	133530
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	825	3438	609413
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	946	3438	609413
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	825	3438	609413
HP:0001251	HP:0001251	Ataxia	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	946	3438	609413
HP:0001251	HP:0001251	Ataxia	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	310	3439	609412
HP:0001251	HP:0001251	Ataxia	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	343	3439	609412
HP:0001251	HP:0001251	Ataxia	0	ETHE1 CL E G H	23474	51188				ORPHA	1	204	23287	608451
HP:0001251	HP:0001251	Ataxia	0	ETHE1 CL E G H	23474	51188				ORPHA	1	226	23287	608451
HP:0001251	HP:0001251	Ataxia	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	204	23287	608451
HP:0001251	HP:0001251	Ataxia	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	226	23287	608451
HP:0001251	HP:0001251	Ataxia	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	270	29160	612322
HP:0001251	HP:0001251	Ataxia	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	294	29160	612322
HP:0001251	HP:0001251	Ataxia	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	326	24682	609144
HP:0001251	HP:0001251	Ataxia	0	FLVCR1 CL E G H	28982	609033	Posterior column ataxia with retinitis pigmentosa	609033	C1836916	OMIM	1	391	24682	609144
HP:0001251	HP:0001251	Ataxia	0	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	57	25491	616305
HP:0001251	HP:0001251	Ataxia	0	FRMD4A CL E G H	55691	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	616819	C4225193	OMIM	1	58	25491	616305
HP:0001251	HP:0001251	Ataxia	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	318	29007	300838
HP:0001251	HP:0001251	Ataxia	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	336	29007	300838
HP:0001251	HP:0001251	Ataxia	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	109	3999	134790
HP:0001251	HP:0001251	Ataxia	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	138	3999	134790
HP:0001251	HP:0001251	Ataxia	0	GABRA1 CL E G H	2554	33069				ORPHA	1	418	4075	137160
HP:0001251	HP:0001251	Ataxia	0	GABRA1 CL E G H	2554	33069				ORPHA	1	458	4075	137160
HP:0001251	HP:0001251	Ataxia	0	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	49	4081	137190
HP:0001251	HP:0001251	Ataxia	0	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	96	4081	137190
HP:0001251	HP:0001251	Ataxia	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	321	4082	600232
HP:0001251	HP:0001251	Ataxia	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	358	4082	600232
HP:0001251	HP:0001251	Ataxia	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	645	4083	137192
HP:0001251	HP:0001251	Ataxia	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	691	4083	137192
HP:0001251	HP:0001251	Ataxia	0	GABRG2 CL E G H	2566	33069				ORPHA	1	425	4087	137164
HP:0001251	HP:0001251	Ataxia	0	GABRG2 CL E G H	2566	33069				ORPHA	1	480	4087	137164
HP:0001251	HP:0001251	Ataxia	0	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	390	4136	601240
HP:0001251	HP:0001251	Ataxia	0	GAMT CL E G H	2593	612736	Deficiency of guanidinoacetate methyltransferase	612736	C0574080	OMIM	1	443	4136	601240
HP:0001251	HP:0001251	Ataxia	0	GBA CL E G H	2629	77261				ORPHA	1	261	4177	606463
HP:0001251	HP:0001251	Ataxia	0	GBA CL E G H	2629	77261				ORPHA	1	269	4177	606463
HP:0001251	HP:0001251	Ataxia	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	261	4177	606463
HP:0001251	HP:0001251	Ataxia	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	269	4177	606463
HP:0001251	HP:0001251	Ataxia	0	GFAP CL E G H	2670	203450	Alexander's disease	203450	C0270726	OMIM	1	284	4235	137780
HP:0001251	HP:0001251	Ataxia	0	GFAP CL E G H	2670	203450	Alexander's disease	203450	C0270726	OMIM	1	316	4235	137780
HP:0001251	HP:0001251	Ataxia	0	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	169	4274	121014
HP:0001251	HP:0001251	Ataxia	0	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	191	4274	121014
HP:0001251	HP:0001251	Ataxia	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	169	4274	121014
HP:0001251	HP:0001251	Ataxia	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	191	4274	121014
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	320401				ORPHA	1	174	17494	608803
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	320401				ORPHA	1	221	17494	608803
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	174	17494	608803
HP:0001251	HP:0001251	Ataxia	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	221	17494	608803
HP:0001251	HP:0001251	Ataxia	0	GLB1 CL E G H	2720	230600	GM1 gangliosidosis type 2	230600	C0268272	OMIM	1	507	4298	611458
HP:0001251	HP:0001251	Ataxia	0	GLB1 CL E G H	2720	230600	GM1 gangliosidosis type 2	230600	C0268272	OMIM	1	596	4298	611458
HP:0001251	HP:0001251	Ataxia	0	GLRA1 CL E G H	2741	3197	Lateral body wall defect			ORPHA	1	299	4326	138491
HP:0001251	HP:0001251	Ataxia	0	GLRA1 CL E G H	2741	3197	Lateral body wall defect			ORPHA	1	342	4326	138491
HP:0001251	HP:0001251	Ataxia	0	GLRB CL E G H	2743	3197	Lateral body wall defect			ORPHA	1	157	4329	138492
HP:0001251	HP:0001251	Ataxia	0	GLRB CL E G H	2743	3197	Lateral body wall defect			ORPHA	1	239	4329	138492
HP:0001251	HP:0001251	Ataxia	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	203	22932	615320
HP:0001251	HP:0001251	Ataxia	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	234	22932	615320
HP:0001251	HP:0001251	Ataxia	0	GOSR2 CL E G H	9570	614018	Epilepsy, progressive myoclonic 6	614018	C3279627	OMIM	1	217	4431	604027
HP:0001251	HP:0001251	Ataxia	0	GOSR2 CL E G H	9570	614018	Epilepsy, progressive myoclonic 6	614018	C3279627	OMIM	1	252	4431	604027
HP:0001251	HP:0001251	Ataxia	0	GPHN CL E G H	10243	3197	Lateral body wall defect			ORPHA	1	276	15465	603930
HP:0001251	HP:0001251	Ataxia	0	GPHN CL E G H	10243	3197	Lateral body wall defect			ORPHA	1	374	15465	603930
HP:0001251	HP:0001251	Ataxia	0	GPI CL E G H	2821	613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	613470	C3150730	OMIM	1	69	4458	172400
HP:0001251	HP:0001251	Ataxia	0	GPI CL E G H	2821	613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	613470	C3150730	OMIM	1	77	4458	172400
HP:0001251	HP:0001251	Ataxia	0	GRN CL E G H	2896	614706	Ceroid lipofuscinosis, neuronal, 11	614706	C3539123	OMIM	1	302	4601	138945
HP:0001251	HP:0001251	Ataxia	0	GRN CL E G H	2896	614706	Ceroid lipofuscinosis, neuronal, 11	614706	C3539123	OMIM	1	358	4601	138945
HP:0001251	HP:0001251	Ataxia	0	GSS CL E G H	2937	266130	Gluthathione synthetase deficiency	266130	C0398746	OMIM	1	122	4624	601002
HP:0001251	HP:0001251	Ataxia	0	GSS CL E G H	2937	266130	Gluthathione synthetase deficiency	266130	C0398746	OMIM	1	144	4624	601002
HP:0001251	HP:0001251	Ataxia	0	HACE1 CL E G H	57531	464282				ORPHA	1	76	21033	610876
HP:0001251	HP:0001251	Ataxia	0	HACE1 CL E G H	57531	464282				ORPHA	1	91	21033	610876
HP:0001251	HP:0001251	Ataxia	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	76	21033	610876
HP:0001251	HP:0001251	Ataxia	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	91	21033	610876
HP:0001251	HP:0001251	Ataxia	0	HARS CL E G H	3035	231183				ORPHA	1		4816	142810
HP:0001251	HP:0001251	Ataxia	0	HEPACAM CL E G H	220296	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	206	26361	611642
HP:0001251	HP:0001251	Ataxia	0	HEPACAM CL E G H	220296	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	231	26361	611642
HP:0001251	HP:0001251	Ataxia	0	HEPACAM CL E G H	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	613925	C3151355	OMIM	1	206	26361	611642
HP:0001251	HP:0001251	Ataxia	0	HEPACAM CL E G H	220296	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2a	613925	C3151355	OMIM	1	231	26361	611642
HP:0001251	HP:0001251	Ataxia	0	HEXB CL E G H	3074	268800	Sandhoff disease	268800	C0036161	OMIM	1	361	4879	606873
HP:0001251	HP:0001251	Ataxia	0	HEXB CL E G H	3074	268800	Sandhoff disease	268800	C0036161	OMIM	1	397	4879	606873
HP:0001251	HP:0001251	Ataxia	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	186	5042	300610
HP:0001251	HP:0001251	Ataxia	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	191	5042	300610
HP:0001251	HP:0001251	Ataxia	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	164	9476	602194
HP:0001251	HP:0001251	Ataxia	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	196	9476	602194
HP:0001251	HP:0001251	Ataxia	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	177	26558	610693
HP:0001251	HP:0001251	Ataxia	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	199	26558	610693
HP:0001251	HP:0001251	Ataxia	0	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	851	29077	614620
HP:0001251	HP:0001251	Ataxia	0	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	1098	29077	614620
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	220493				ORPHA	1	466	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	220493				ORPHA	1	559	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	466	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	559	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	466	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	559	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	466	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	559	21474	613037
HP:0001251	HP:0001251	Ataxia	0	INPP5K CL E G H	51763	559				ORPHA	1	145	33882	607875
HP:0001251	HP:0001251	Ataxia	0	INPP5K CL E G H	51763	559				ORPHA	1	153	33882	607875
HP:0001251	HP:0001251	Ataxia	0	ITM2B CL E G H	9445	117300	Dementia, familial Danish	117300	C1861735	OMIM	1	71	6174	603904
HP:0001251	HP:0001251	Ataxia	0	ITM2B CL E G H	9445	117300	Dementia, familial Danish	117300	C1861735	OMIM	1	95	6174	603904
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	895	6180	147265
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	969	6180	147265
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	895	6180	147265
HP:0001251	HP:0001251	Ataxia	0	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	969	6180	147265
HP:0001251	HP:0001251	Ataxia	0	KCNA1 CL E G H	3736	972				ORPHA	1	390	6218	176260
HP:0001251	HP:0001251	Ataxia	0	KCNA1 CL E G H	3736	972				ORPHA	1	438	6218	176260
HP:0001251	HP:0001251	Ataxia	0	KCNA2 CL E G H	3737	616366	Epileptic encephalopathy, early infantile, 32	616366	C4225350	OMIM	1	248	6220	176262
HP:0001251	HP:0001251	Ataxia	0	KCNA2 CL E G H	3737	616366	Epileptic encephalopathy, early infantile, 32	616366	C4225350	OMIM	1	279	6220	176262
HP:0001251	HP:0001251	Ataxia	0	KCNJ10 CL E G H	3766	199343				ORPHA	1	289	6256	602208
HP:0001251	HP:0001251	Ataxia	0	KCNJ10 CL E G H	3766	199343				ORPHA	1	319	6256	602208
HP:0001251	HP:0001251	Ataxia	0	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	1		29068	616650
HP:0001251	HP:0001251	Ataxia	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	1	338	19960	610178
HP:0001251	HP:0001251	Ataxia	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	1	662	19960	610178
HP:0001251	HP:0001251	Ataxia	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	122	29110	617112
HP:0001251	HP:0001251	Ataxia	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	184	29110	617112
HP:0001251	HP:0001251	Ataxia	0	KIF1A CL E G H	547	101010				ORPHA	1	1441	888	601255
HP:0001251	HP:0001251	Ataxia	0	KIF1A CL E G H	547	101010				ORPHA	1	1735	888	601255
HP:0001251	HP:0001251	Ataxia	0	KIF7 CL E G H	374654	2754				ORPHA	1	540	30497	611254
HP:0001251	HP:0001251	Ataxia	0	KIF7 CL E G H	374654	2754				ORPHA	1	813	30497	611254
HP:0001251	HP:0001251	Ataxia	0	KLLN CL E G H	100144748	201				ORPHA	1	248	37212	612105
HP:0001251	HP:0001251	Ataxia	0	KLLN CL E G H	100144748	201				ORPHA	1	270	37212	612105
HP:0001251	HP:0001251	Ataxia	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	188	6556	604407
HP:0001251	HP:0001251	Ataxia	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	228	6556	604407
HP:0001251	HP:0001251	Ataxia	0	LMBRD1 CL E G H	55788	79284				ORPHA	1	157	23038	612625
HP:0001251	HP:0001251	Ataxia	0	LMBRD1 CL E G H	55788	79284				ORPHA	1	193	23038	612625
HP:0001251	HP:0001251	Ataxia	0	LMNB1 CL E G H	4001	99027				ORPHA	1	129	6637	150340
HP:0001251	HP:0001251	Ataxia	0	LMNB1 CL E G H	4001	99027				ORPHA	1	151	6637	150340
HP:0001251	HP:0001251	Ataxia	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	129	6637	150340
HP:0001251	HP:0001251	Ataxia	0	LMNB1 CL E G H	4001	169500	Leukodystrophy, adult-onset, autosomal dominant	169500	C1868512	OMIM	1	151	6637	150340
HP:0001251	HP:0001251	Ataxia	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	811	15714	607544
HP:0001251	HP:0001251	Ataxia	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	891	15714	607544
HP:0001251	HP:0001251	Ataxia	0	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	63	28072	615831
HP:0001251	HP:0001251	Ataxia	0	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	66	28072	615831
HP:0001251	HP:0001251	Ataxia	0	MAST1 CL E G H	22983	618273	618273	618273		OMIM	1	50	19034	612256
HP:0001251	HP:0001251	Ataxia	0	MAST1 CL E G H	22983	618273	618273	618273		OMIM	1	57	19034	612256
HP:0001251	HP:0001251	Ataxia	0	MBD5 CL E G H	55777	228402				ORPHA	1	878	20444	611472
HP:0001251	HP:0001251	Ataxia	0	MBD5 CL E G H	55777	228402				ORPHA	1	993	20444	611472
HP:0001251	HP:0001251	Ataxia	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	878	20444	611472
HP:0001251	HP:0001251	Ataxia	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	993	20444	611472
HP:0001251	HP:0001251	Ataxia	0	MCOLN1 CL E G H	57192	578	Akesson syndrome			ORPHA	1	418	13356	605248
HP:0001251	HP:0001251	Ataxia	0	MCOLN1 CL E G H	57192	578	Akesson syndrome			ORPHA	1	448	13356	605248
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	778				ORPHA	1	1603	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	778				ORPHA	1	1684	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1603	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1684	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1603	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1684	6990	300005
HP:0001251	HP:0001251	Ataxia	0	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	60	19691	608205
HP:0001251	HP:0001251	Ataxia	0	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	73	19691	608205
HP:0001251	HP:0001251	Ataxia	0	MED13L CL E G H	23389	616789	Mental retardation and distinctive facial features with or without cardiac defects	616789	C4225208	OMIM	1	566	22962	608771
HP:0001251	HP:0001251	Ataxia	0	MED13L CL E G H	23389	616789	Mental retardation and distinctive facial features with or without cardiac defects	616789	C4225208	OMIM	1	596	22962	608771
HP:0001251	HP:0001251	Ataxia	0	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	518	28486	611124
HP:0001251	HP:0001251	Ataxia	0	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	595	28486	611124
HP:0001251	HP:0001251	Ataxia	0	MICOS13 CL E G H	125988	67047				ORPHA	1	19	33702	616658
HP:0001251	HP:0001251	Ataxia	0	MICOS13 CL E G H	125988	67047				ORPHA	1	20	33702	616658
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	220493				ORPHA	1	477	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	220493				ORPHA	1	553	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	1	477	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	1	553	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	617121	Joubert syndrome 28	617121	C4310705	OMIM	1	477	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MKS1 CL E G H	54903	617121	Joubert syndrome 28	617121	C4310705	OMIM	1	553	7121	609883
HP:0001251	HP:0001251	Ataxia	0	MLC1 CL E G H	23209	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	480	17082	605908
HP:0001251	HP:0001251	Ataxia	0	MLC1 CL E G H	23209	604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	604004	C1858854	OMIM	1	507	17082	605908
HP:0001251	HP:0001251	Ataxia	0	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	95	7207	604041
HP:0001251	HP:0001251	Ataxia	0	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	100	7207	604041
HP:0001251	HP:0001251	Ataxia	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	155	7224	137960
HP:0001251	HP:0001251	Ataxia	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	170	7224	137960
HP:0001251	HP:0001251	Ataxia	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0001251	HP:0001251	Ataxia	0	MT-ATP6 CL E G H	4508	551500	Neuropathy ataxia retinitis pigmentosa syndrome	551500	C1328349	OMIM	1		7414	516060
HP:0001251	HP:0001251	Ataxia	0	MT-ATP8 CL E G H	4509	480				ORPHA	1		7415	516070
HP:0001251	HP:0001251	Ataxia	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0001251	HP:0001251	Ataxia	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0001251	HP:0001251	Ataxia	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0001251	HP:0001251	Ataxia	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0001251	HP:0001251	Ataxia	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0001251	HP:0001251	Ataxia	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0001251	HP:0001251	Ataxia	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0001251	HP:0001251	Ataxia	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0001251	HP:0001251	Ataxia	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0001251	HP:0001251	Ataxia	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0001251	HP:0001251	Ataxia	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0001251	HP:0001251	Ataxia	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0001251	HP:0001251	Ataxia	0	MT-ND5 CL E G H	4540	551				ORPHA	1		7461	516005
HP:0001251	HP:0001251	Ataxia	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0001251	HP:0001251	Ataxia	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0001251	HP:0001251	Ataxia	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0001251	HP:0001251	Ataxia	0	MT-RNR1 CL E G H	4549	551				ORPHA	1		7470	180450
HP:0001251	HP:0001251	Ataxia	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0001251	HP:0001251	Ataxia	0	MT-TF CL E G H	4558	551				ORPHA	1		7481	590070
HP:0001251	HP:0001251	Ataxia	0	MT-TF CL E G H	4558	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7481	590070
HP:0001251	HP:0001251	Ataxia	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0001251	HP:0001251	Ataxia	0	MT-TH CL E G H	4564	551				ORPHA	1		7487	590040
HP:0001251	HP:0001251	Ataxia	0	MT-TI CL E G H	4565	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7488	590045
HP:0001251	HP:0001251	Ataxia	0	MT-TK CL E G H	4566	551				ORPHA	1		7489	590060
HP:0001251	HP:0001251	Ataxia	0	MT-TK CL E G H	4566	1349	Chromosome 9, partial monosomy 9p		C2931695	ORPHA	1		7489	590060
HP:0001251	HP:0001251	Ataxia	0	MT-TK CL E G H	4566	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7489	590060
HP:0001251	HP:0001251	Ataxia	0	MT-TL1 CL E G H	4567	480				ORPHA	1		7490	590050
HP:0001251	HP:0001251	Ataxia	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0001251	HP:0001251	Ataxia	0	MT-TL1 CL E G H	4567	551				ORPHA	1		7490	590050
HP:0001251	HP:0001251	Ataxia	0	MT-TL1 CL E G H	4567	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7490	590050
HP:0001251	HP:0001251	Ataxia	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0001251	HP:0001251	Ataxia	0	MT-TP CL E G H	4571	551				ORPHA	1		7494	590075
HP:0001251	HP:0001251	Ataxia	0	MT-TP CL E G H	4571	545000	Myoclonus with epilepsy with ragged red fibers	545000	C0162672	OMIM	1		7494	590075
HP:0001251	HP:0001251	Ataxia	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0001251	HP:0001251	Ataxia	0	MT-TQ CL E G H	4572	551				ORPHA	1		7495	590030
HP:0001251	HP:0001251	Ataxia	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0001251	HP:0001251	Ataxia	0	MT-TS1 CL E G H	4574	551				ORPHA	1		7497	590080
HP:0001251	HP:0001251	Ataxia	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0001251	HP:0001251	Ataxia	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0001251	HP:0001251	Ataxia	0	MT-TS2 CL E G H	4575	551				ORPHA	1		7498	590085
HP:0001251	HP:0001251	Ataxia	0	MT-TS2 CL E G H	4575	231183				ORPHA	1		7498	590085
HP:0001251	HP:0001251	Ataxia	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0001251	HP:0001251	Ataxia	0	MTTP CL E G H	4547	200100	Abetalipoproteinaemia	200100	C0000744	OMIM	1	442	7467	157147
HP:0001251	HP:0001251	Ataxia	0	MTTP CL E G H	4547	200100	Abetalipoproteinaemia	200100	C0000744	OMIM	1	550	7467	157147
HP:0001251	HP:0001251	Ataxia	0	MTTP CL E G H	4547	14	Bilateral squint		CN228276	ORPHA	1	442	7467	157147
HP:0001251	HP:0001251	Ataxia	0	MTTP CL E G H	4547	14	Bilateral squint		CN228276	ORPHA	1	550	7467	157147
HP:0001251	HP:0001251	Ataxia	0	MVK CL E G H	4598	29				ORPHA	1	371	7530	251170
HP:0001251	HP:0001251	Ataxia	0	MVK CL E G H	4598	29				ORPHA	1	401	7530	251170
HP:0001251	HP:0001251	Ataxia	0	MYO5A CL E G H	4644	79476				ORPHA	1	222	7602	160777
HP:0001251	HP:0001251	Ataxia	0	MYO5A CL E G H	4644	79476				ORPHA	1	229	7602	160777
HP:0001251	HP:0001251	Ataxia	0	MYO7A CL E G H	4647	231169				ORPHA	1	2223	7606	276903
HP:0001251	HP:0001251	Ataxia	0	MYO7A CL E G H	4647	231169				ORPHA	1	2516	7606	276903
HP:0001251	HP:0001251	Ataxia	0	MYO9A CL E G H	4649	98914				ORPHA	1	164	7608	604875
HP:0001251	HP:0001251	Ataxia	0	MYO9A CL E G H	4649	98914				ORPHA	1	168	7608	604875
HP:0001251	HP:0001251	Ataxia	0	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	74	19237	605202
HP:0001251	HP:0001251	Ataxia	0	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	102	19237	605202
HP:0001251	HP:0001251	Ataxia	0	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	61	18453	608862
HP:0001251	HP:0001251	Ataxia	0	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	91	18453	608862
HP:0001251	HP:0001251	Ataxia	0	NDUFAF6 CL E G H	137682	618239	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239		OMIM	1	166	28625	612392
HP:0001251	HP:0001251	Ataxia	0	NDUFAF6 CL E G H	137682	618239	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239		OMIM	1	185	28625	612392
HP:0001251	HP:0001251	Ataxia	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	263	7707	157655
HP:0001251	HP:0001251	Ataxia	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	301	7707	157655
HP:0001251	HP:0001251	Ataxia	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	97	7711	602694
HP:0001251	HP:0001251	Ataxia	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	101	7711	602694
HP:0001251	HP:0001251	Ataxia	0	NDUFS7 CL E G H	374291	618224	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3	618224		OMIM	1	130	7714	601825
HP:0001251	HP:0001251	Ataxia	0	NDUFS7 CL E G H	374291	618224	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3	618224		OMIM	1	142	7714	601825
HP:0001251	HP:0001251	Ataxia	0	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	174	7716	161015
HP:0001251	HP:0001251	Ataxia	0	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	200	7716	161015
HP:0001251	HP:0001251	Ataxia	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	171	12768	606026
HP:0001251	HP:0001251	Ataxia	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	175	12768	606026
HP:0001251	HP:0001251	Ataxia	0	NEU1 CL E G H	4758	812				ORPHA	1	115	7758	608272
HP:0001251	HP:0001251	Ataxia	0	NEU1 CL E G H	4758	812				ORPHA	1	134	7758	608272
HP:0001251	HP:0001251	Ataxia	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	650	29433	300524
HP:0001251	HP:0001251	Ataxia	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	736	29433	300524
HP:0001251	HP:0001251	Ataxia	0	NF2 CL E G H	4771	637				ORPHA	1	1016	7773	607379
HP:0001251	HP:0001251	Ataxia	0	NF2 CL E G H	4771	637				ORPHA	1	1167	7773	607379
HP:0001251	HP:0001251	Ataxia	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	170	11825	600635
HP:0001251	HP:0001251	Ataxia	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	194	11825	600635
HP:0001251	HP:0001251	Ataxia	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	119	19321	605955
HP:0001251	HP:0001251	Ataxia	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	151	19321	605955
HP:0001251	HP:0001251	Ataxia	0	NME1 CL E G H	4830	256700	Neuroblastoma	256700	C0027819	OMIM	1	14	7849	156490
HP:0001251	HP:0001251	Ataxia	0	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	41	7869	605235
HP:0001251	HP:0001251	Ataxia	0	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	42	7869	605235
HP:0001251	HP:0001251	Ataxia	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	188	7871	300084
HP:0001251	HP:0001251	Ataxia	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	193	7871	300084
HP:0001251	HP:0001251	Ataxia	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	1085	7897	607623
HP:0001251	HP:0001251	Ataxia	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	1288	7897	607623
HP:0001251	HP:0001251	Ataxia	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	127	14537	601015
HP:0001251	HP:0001251	Ataxia	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	147	14537	601015
HP:0001251	HP:0001251	Ataxia	0	NPHP1 CL E G H	4867	220497				ORPHA	1	532	7905	607100
HP:0001251	HP:0001251	Ataxia	0	NPHP1 CL E G H	4867	220497				ORPHA	1	626	7905	607100
HP:0001251	HP:0001251	Ataxia	0	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	532	7905	607100
HP:0001251	HP:0001251	Ataxia	0	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	626	7905	607100
HP:0001251	HP:0001251	Ataxia	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	249	12766	602952
HP:0001251	HP:0001251	Ataxia	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	262	12766	602952
HP:0001251	HP:0001251	Ataxia	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	222	20278	613621
HP:0001251	HP:0001251	Ataxia	0	NUBPL CL E G H	80224	618242	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242		OMIM	1	231	20278	613621
HP:0001251	HP:0001251	Ataxia	0	OFD1 CL E G H	8481	2750				ORPHA	1	647	2567	300170
HP:0001251	HP:0001251	Ataxia	0	OFD1 CL E G H	8481	2750				ORPHA	1	723	2567	300170
HP:0001251	HP:0001251	Ataxia	0	OFD1 CL E G H	8481	2754				ORPHA	1	647	2567	300170
HP:0001251	HP:0001251	Ataxia	0	OFD1 CL E G H	8481	2754				ORPHA	1	723	2567	300170
HP:0001251	HP:0001251	Ataxia	0	OGDH CL E G H	4967	31	Serpiginous choroiditis			ORPHA	1	77	8124	613022
HP:0001251	HP:0001251	Ataxia	0	OGDH CL E G H	4967	31	Serpiginous choroiditis			ORPHA	1	90	8124	613022
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	67036				ORPHA	1	372	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	67036				ORPHA	1	401	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	67047				ORPHA	1	372	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	67047				ORPHA	1	401	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	372	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	401	8142	606580
HP:0001251	HP:0001251	Ataxia	0	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	1	741	8512	300461
HP:0001251	HP:0001251	Ataxia	0	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	1	776	8512	300461
HP:0001251	HP:0001251	Ataxia	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	263	15894	606157
HP:0001251	HP:0001251	Ataxia	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	331	15894	606157
HP:0001251	HP:0001251	Ataxia	0	PAX6 CL E G H	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	577	8620	607108
HP:0001251	HP:0001251	Ataxia	0	PAX6 CL E G H	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	632	8620	607108
HP:0001251	HP:0001251	Ataxia	0	PCDH15 CL E G H	65217	231169				ORPHA	1	1709	14674	605514
HP:0001251	HP:0001251	Ataxia	0	PCDH15 CL E G H	65217	231169				ORPHA	1	1985	14674	605514
HP:0001251	HP:0001251	Ataxia	0	PCDH19 CL E G H	57526	33069				ORPHA	1	921	14270	300460
HP:0001251	HP:0001251	Ataxia	0	PCDH19 CL E G H	57526	33069				ORPHA	1	1038	14270	300460
HP:0001251	HP:0001251	Ataxia	0	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	40	8729	176740
HP:0001251	HP:0001251	Ataxia	0	PDE6D CL E G H	5147	2754				ORPHA	1	41	8788	602676
HP:0001251	HP:0001251	Ataxia	0	PDE6D CL E G H	5147	2754				ORPHA	1	57	8788	602676
HP:0001251	HP:0001251	Ataxia	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	229	21350	608769
HP:0001251	HP:0001251	Ataxia	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	264	21350	608769
HP:0001251	HP:0001251	Ataxia	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	43	40038	614770
HP:0001251	HP:0001251	Ataxia	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	51	40038	614770
HP:0001251	HP:0001251	Ataxia	0	PEX1 CL E G H	5189	772				ORPHA	1	793	8850	602136
HP:0001251	HP:0001251	Ataxia	0	PEX1 CL E G H	5189	772				ORPHA	1	951	8850	602136
HP:0001251	HP:0001251	Ataxia	0	PEX10 CL E G H	5192	772				ORPHA	1	480	8851	602859
HP:0001251	HP:0001251	Ataxia	0	PEX10 CL E G H	5192	772				ORPHA	1	578	8851	602859
HP:0001251	HP:0001251	Ataxia	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	480	8851	602859
HP:0001251	HP:0001251	Ataxia	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	578	8851	602859
HP:0001251	HP:0001251	Ataxia	0	PEX11B CL E G H	8799	772				ORPHA	1	284	8853	603867
HP:0001251	HP:0001251	Ataxia	0	PEX11B CL E G H	8799	772				ORPHA	1	332	8853	603867
HP:0001251	HP:0001251	Ataxia	0	PEX12 CL E G H	5193	772				ORPHA	1	245	8854	601758
HP:0001251	HP:0001251	Ataxia	0	PEX12 CL E G H	5193	772				ORPHA	1	320	8854	601758
HP:0001251	HP:0001251	Ataxia	0	PEX13 CL E G H	5194	772				ORPHA	1	234	8855	601789
HP:0001251	HP:0001251	Ataxia	0	PEX13 CL E G H	5194	772				ORPHA	1	342	8855	601789
HP:0001251	HP:0001251	Ataxia	0	PEX14 CL E G H	5195	772				ORPHA	1	234	8856	601791
HP:0001251	HP:0001251	Ataxia	0	PEX14 CL E G H	5195	772				ORPHA	1	311	8856	601791
HP:0001251	HP:0001251	Ataxia	0	PEX16 CL E G H	9409	772				ORPHA	1	203	8857	603360
HP:0001251	HP:0001251	Ataxia	0	PEX16 CL E G H	9409	772				ORPHA	1	282	8857	603360
HP:0001251	HP:0001251	Ataxia	0	PEX19 CL E G H	5824	772				ORPHA	1	181	9713	600279
HP:0001251	HP:0001251	Ataxia	0	PEX19 CL E G H	5824	772				ORPHA	1	249	9713	600279
HP:0001251	HP:0001251	Ataxia	0	PEX2 CL E G H	5828	772				ORPHA	1	254	9717	170993
HP:0001251	HP:0001251	Ataxia	0	PEX2 CL E G H	5828	772				ORPHA	1	319	9717	170993
HP:0001251	HP:0001251	Ataxia	0	PEX26 CL E G H	55670	772				ORPHA	1	315	22965	608666
HP:0001251	HP:0001251	Ataxia	0	PEX26 CL E G H	55670	772				ORPHA	1	392	22965	608666
HP:0001251	HP:0001251	Ataxia	0	PEX3 CL E G H	8504	772				ORPHA	1	158	8858	603164
HP:0001251	HP:0001251	Ataxia	0	PEX3 CL E G H	8504	772				ORPHA	1	219	8858	603164
HP:0001251	HP:0001251	Ataxia	0	PEX5 CL E G H	5830	772				ORPHA	1	406	9719	600414
HP:0001251	HP:0001251	Ataxia	0	PEX5 CL E G H	5830	772				ORPHA	1	563	9719	600414
HP:0001251	HP:0001251	Ataxia	0	PEX6 CL E G H	5190	772				ORPHA	1	645	8859	601498
HP:0001251	HP:0001251	Ataxia	0	PEX6 CL E G H	5190	772				ORPHA	1	855	8859	601498
HP:0001251	HP:0001251	Ataxia	0	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	645	8859	601498
HP:0001251	HP:0001251	Ataxia	0	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	855	8859	601498
HP:0001251	HP:0001251	Ataxia	0	PEX7 CL E G H	5191	773				ORPHA	1	310	8860	601757
HP:0001251	HP:0001251	Ataxia	0	PEX7 CL E G H	5191	773				ORPHA	1	363	8860	601757
HP:0001251	HP:0001251	Ataxia	0	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	310	8860	601757
HP:0001251	HP:0001251	Ataxia	0	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	363	8860	601757
HP:0001251	HP:0001251	Ataxia	0	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	1	228	8896	311800
HP:0001251	HP:0001251	Ataxia	0	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	1	245	8896	311800
HP:0001251	HP:0001251	Ataxia	0	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	163	8907	172100
HP:0001251	HP:0001251	Ataxia	0	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	217	8907	172100
HP:0001251	HP:0001251	Ataxia	0	PHYH CL E G H	5264	773				ORPHA	1	201	8940	602026
HP:0001251	HP:0001251	Ataxia	0	PHYH CL E G H	5264	773				ORPHA	1	260	8940	602026
HP:0001251	HP:0001251	Ataxia	0	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	201	8940	602026
HP:0001251	HP:0001251	Ataxia	0	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	260	8940	602026
HP:0001251	HP:0001251	Ataxia	0	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	1	96	23352	607532
HP:0001251	HP:0001251	Ataxia	0	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	1	104	23352	607532
HP:0001251	HP:0001251	Ataxia	0	PIBF1 CL E G H	10464	617767	JOUBERT SYNDROME 33	617767	C4540389	OMIM	1	96	23352	607532
HP:0001251	HP:0001251	Ataxia	0	PIBF1 CL E G H	10464	617767	JOUBERT SYNDROME 33	617767	C4540389	OMIM	1	104	23352	607532
HP:0001251	HP:0001251	Ataxia	0	PIGG CL E G H	54872	616917	Mental retardation, autosomal recessive 53	616917	C4310794	OMIM	1	572	25985	616918
HP:0001251	HP:0001251	Ataxia	0	PIGG CL E G H	54872	616917	Mental retardation, autosomal recessive 53	616917	C4310794	OMIM	1	729	25985	616918
HP:0001251	HP:0001251	Ataxia	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	118	14938	610272
HP:0001251	HP:0001251	Ataxia	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	142	14938	610272
HP:0001251	HP:0001251	Ataxia	0	PIK3CA CL E G H	5290	201				ORPHA	1	544	8975	171834
HP:0001251	HP:0001251	Ataxia	0	PIK3CA CL E G H	5290	201				ORPHA	1	613	8975	171834
HP:0001251	HP:0001251	Ataxia	0	PIK3R5 CL E G H	23533	64753				ORPHA	1	48	30035	611317
HP:0001251	HP:0001251	Ataxia	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	431	9039	603604
HP:0001251	HP:0001251	Ataxia	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	513	9039	603604
HP:0001251	HP:0001251	Ataxia	0	PLEKHG4 CL E G H	25894	98765				ORPHA	1	40	24501	609526
HP:0001251	HP:0001251	Ataxia	0	PLEKHG4 CL E G H	25894	98765				ORPHA	1	41	24501	609526
HP:0001251	HP:0001251	Ataxia	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	335	9086	300401
HP:0001251	HP:0001251	Ataxia	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	365	9086	300401
HP:0001251	HP:0001251	Ataxia	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	491	9115	601785
HP:0001251	HP:0001251	Ataxia	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	542	9115	601785
HP:0001251	HP:0001251	Ataxia	0	PMPCA CL E G H	23203	1170				ORPHA	1	128	18667	613036
HP:0001251	HP:0001251	Ataxia	0	PMPCA CL E G H	23203	1170				ORPHA	1	134	18667	613036
HP:0001251	HP:0001251	Ataxia	0	PNKP CL E G H	11284	616267	Ataxia-oculomotor apraxia 4	616267	C4225397	OMIM	1	680	9154	605610
HP:0001251	HP:0001251	Ataxia	0	PNKP CL E G H	11284	616267	Ataxia-oculomotor apraxia 4	616267	C4225397	OMIM	1	769	9154	605610
HP:0001251	HP:0001251	Ataxia	0	PNP CL E G H	4860	613179	Purine-nucleoside phosphorylase deficiency	613179	C0268125	OMIM	1	166	7892	164050
HP:0001251	HP:0001251	Ataxia	0	PNP CL E G H	4860	613179	Purine-nucleoside phosphorylase deficiency	613179	C0268125	OMIM	1	187	7892	164050
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	1180				ORPHA	1	669	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	1180				ORPHA	1	808	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	1	669	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	215470	Boucher Neuhauser syndrome	215470	C1859093	OMIM	1	808	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	1173	CDG syndrome type 3			ORPHA	1	669	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	1173	CDG syndrome type 3			ORPHA	1	808	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	245800	Laurence-Moon syndrome	245800	C0023138	OMIM	1	669	16268	603197
HP:0001251	HP:0001251	Ataxia	0	PNPLA6 CL E G H	10908	245800	Laurence-Moon syndrome	245800	C0023138	OMIM	1	808	16268	603197
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	726				ORPHA	1	1470	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	726				ORPHA	1	1712	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	1470	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	1712	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	1470	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	1712	9179	174763
HP:0001251	HP:0001251	Ataxia	0	POLR1C CL E G H	9533	88637				ORPHA	1	1019	20194	610060
HP:0001251	HP:0001251	Ataxia	0	POLR1C CL E G H	9533	88637				ORPHA	1	1131	20194	610060
HP:0001251	HP:0001251	Ataxia	0	POLR3A CL E G H	11128	88637				ORPHA	1	484	30074	614258
HP:0001251	HP:0001251	Ataxia	0	POLR3A CL E G H	11128	88637				ORPHA	1	654	30074	614258
HP:0001251	HP:0001251	Ataxia	0	POLR3B CL E G H	55703	88637				ORPHA	1	297	30348	614366
HP:0001251	HP:0001251	Ataxia	0	POLR3B CL E G H	55703	88637				ORPHA	1	326	30348	614366
HP:0001251	HP:0001251	Ataxia	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	420	9325	600722
HP:0001251	HP:0001251	Ataxia	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	454	9325	600722
HP:0001251	HP:0001251	Ataxia	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	294	9360	170280
HP:0001251	HP:0001251	Ataxia	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	354	9360	170280
HP:0001251	HP:0001251	Ataxia	0	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	131	9449	176640
HP:0001251	HP:0001251	Ataxia	0	PRNP CL E G H	5621	600072	Fatal familial insomnia	600072	C0206042	OMIM	1	146	9449	176640
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	303	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	321	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	1187	Cerebellar agenesis			ORPHA	1	303	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	1187	Cerebellar agenesis			ORPHA	1	321	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	300661	C1970827	OMIM	1	303	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRPS1 CL E G H	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	300661	C1970827	OMIM	1	321	9462	311850
HP:0001251	HP:0001251	Ataxia	0	PRRT2 CL E G H	112476	569				ORPHA	1	597	30500	614386
HP:0001251	HP:0001251	Ataxia	0	PRRT2 CL E G H	112476	569				ORPHA	1	659	30500	614386
HP:0001251	HP:0001251	Ataxia	0	PRRT2 CL E G H	112476	31709				ORPHA	1	597	30500	614386
HP:0001251	HP:0001251	Ataxia	0	PRRT2 CL E G H	112476	31709				ORPHA	1	659	30500	614386
HP:0001251	HP:0001251	Ataxia	0	PTEN CL E G H	5728	201				ORPHA	1	2246	9588	601728
HP:0001251	HP:0001251	Ataxia	0	PTEN CL E G H	5728	201				ORPHA	1	2416	9588	601728
HP:0001251	HP:0001251	Ataxia	0	PTEN CL E G H	5728	65285				ORPHA	1	2246	9588	601728
HP:0001251	HP:0001251	Ataxia	0	PTEN CL E G H	5728	65285				ORPHA	1	2416	9588	601728
HP:0001251	HP:0001251	Ataxia	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	37	24265	608625
HP:0001251	HP:0001251	Ataxia	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	39	24265	608625
HP:0001251	HP:0001251	Ataxia	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	164	9689	612719
HP:0001251	HP:0001251	Ataxia	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	185	9689	612719
HP:0001251	HP:0001251	Ataxia	0	RAD50 CL E G H	10111	613078	Nijmegen breakage syndrome-like disorder	613078	C2751318	OMIM	1	2611	9816	604040
HP:0001251	HP:0001251	Ataxia	0	RAD50 CL E G H	10111	613078	Nijmegen breakage syndrome-like disorder	613078	C2751318	OMIM	1	2928	9816	604040
HP:0001251	HP:0001251	Ataxia	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	233	30220	611908
HP:0001251	HP:0001251	Ataxia	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	324	30220	611908
HP:0001251	HP:0001251	Ataxia	0	RIPK4 CL E G H	54101	1401				ORPHA	1	268	496	605706
HP:0001251	HP:0001251	Ataxia	0	RIPK4 CL E G H	54101	1401				ORPHA	1	272	496	605706
HP:0001251	HP:0001251	Ataxia	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	86	18466	604123
HP:0001251	HP:0001251	Ataxia	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	95	18466	604123
HP:0001251	HP:0001251	Ataxia	0	RNF168 CL E G H	165918	611943	Riddle syndrome	611943	C2677792	OMIM	1	147	26661	612688
HP:0001251	HP:0001251	Ataxia	0	RNF168 CL E G H	165918	611943	Riddle syndrome	611943	C2677792	OMIM	1	232	26661	612688
HP:0001251	HP:0001251	Ataxia	0	RNF216 CL E G H	54476	1173	CDG syndrome type 3			ORPHA	1	134	21698	609948
HP:0001251	HP:0001251	Ataxia	0	RNF216 CL E G H	54476	1173	CDG syndrome type 3			ORPHA	1	179	21698	609948
HP:0001251	HP:0001251	Ataxia	0	RNF216 CL E G H	54476	212840	Gordon Holmes syndrome	212840	C1859305	OMIM	1	134	21698	609948
HP:0001251	HP:0001251	Ataxia	0	RNF216 CL E G H	54476	212840	Gordon Holmes syndrome	212840	C1859305	OMIM	1	179	21698	609948
HP:0001251	HP:0001251	Ataxia	0	ROGDI CL E G H	79641	226750	Kohlschutter's syndrome	226750	C0406740	OMIM	1	337	29478	614574
HP:0001251	HP:0001251	Ataxia	0	ROGDI CL E G H	79641	226750	Kohlschutter's syndrome	226750	C0406740	OMIM	1	399	29478	614574
HP:0001251	HP:0001251	Ataxia	0	RORA CL E G H	6095	618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA	618060	CN252646	OMIM	1	65	10258	600825
HP:0001251	HP:0001251	Ataxia	0	RORA CL E G H	6095	618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA	618060	CN252646	OMIM	1	68	10258	600825
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	220497				ORPHA	1	794	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	220497				ORPHA	1	964	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	794	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	964	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	794	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	964	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	794	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	964	29168	610937
HP:0001251	HP:0001251	Ataxia	0	RPIA CL E G H	22934	608611	Deficiency of ribose-5-phosphate isomerase	608611	C1291609	OMIM	1	64	10297	180430
HP:0001251	HP:0001251	Ataxia	0	RPIA CL