Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000602	HP:0000602	Ophthalmoplegia	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		826
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		96
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0000602	HP:0000602	Ophthalmoplegia	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000602	HP:0000602	Ophthalmoplegia	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0000602	HP:0000602	Ophthalmoplegia	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		175
HP:0000602	HP:0000602	Ophthalmoplegia	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000602	HP:0000602	Ophthalmoplegia	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000602	HP:0000602	Ophthalmoplegia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000602	HP:0000602	Ophthalmoplegia	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		6
HP:0000602	HP:0000602	Ophthalmoplegia	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0000602	HP:0000602	Ophthalmoplegia	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0000602	HP:0000602	Ophthalmoplegia	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		29
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000602	HP:0000602	Ophthalmoplegia	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000602	HP:0000602	Ophthalmoplegia	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		114
HP:0000602	HP:0000602	Ophthalmoplegia	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		97
HP:0000602	HP:0000602	Ophthalmoplegia	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		182
HP:0000602	HP:0000602	Ophthalmoplegia	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0000602	HP:0000602	Ophthalmoplegia	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0000602	HP:0000602	Ophthalmoplegia	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0000602	HP:0000602	Ophthalmoplegia	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000602	HP:0000602	Ophthalmoplegia	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		23
HP:0000602	HP:0000602	Ophthalmoplegia	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000602	HP:0000602	Ophthalmoplegia	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000602	HP:0000602	Ophthalmoplegia	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		147
HP:0000602	HP:0000602	Ophthalmoplegia	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		71
HP:0000602	HP:0000602	Ophthalmoplegia	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.		53
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.		88
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.		139
HP:0000602	HP:0000602	Ophthalmoplegia	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0000602	HP:0000602	Ophthalmoplegia	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		60
HP:0000602	HP:0000602	Ophthalmoplegia	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		44
HP:0000602	HP:0000602	Ophthalmoplegia	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		164
HP:0000602	HP:0000602	Ophthalmoplegia	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0000602	HP:0000602	Ophthalmoplegia	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		156
HP:0000602	HP:0000602	Ophthalmoplegia	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		158
HP:0000602	HP:0000602	Ophthalmoplegia	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000602	HP:0000602	Ophthalmoplegia	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000602	HP:0000602	Ophthalmoplegia	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0000602	HP:0000602	Ophthalmoplegia	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000602	HP:0000602	Ophthalmoplegia	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0000602	HP:0000602	Ophthalmoplegia	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0000602	HP:0000602	Ophthalmoplegia	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0000602	HP:0000602	Ophthalmoplegia	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0000602	HP:0000602	Ophthalmoplegia	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0000602	HP:0000602	Ophthalmoplegia	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0000602	HP:0000602	Ophthalmoplegia	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0000602	HP:0000602	Ophthalmoplegia	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0000602	HP:0000602	Ophthalmoplegia	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		209
HP:0000602	HP:0000602	Ophthalmoplegia	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040284 - Very rare		76
HP:0000602	HP:0000602	Ophthalmoplegia	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0000602	HP:0000602	Ophthalmoplegia	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		56
HP:0000602	HP:0000602	Ophthalmoplegia	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0000602	HP:0000602	Ophthalmoplegia	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000602	HP:0000602	Ophthalmoplegia	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		26
HP:0000602	HP:0000602	Ophthalmoplegia	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000602	HP:0000602	Ophthalmoplegia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000602	HP:0000602	Ophthalmoplegia	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000602	HP:0000602	Ophthalmoplegia	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000602	HP:0000602	Ophthalmoplegia	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0000602	HP:0000602	Ophthalmoplegia	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		36
HP:0000602	HP:0000602	Ophthalmoplegia	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		86
HP:0000602	HP:0000602	Ophthalmoplegia	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000602	HP:0000602	Ophthalmoplegia	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional		113
HP:0000602	HP:0000602	Ophthalmoplegia	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0000602	HP:0000602	Ophthalmoplegia	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		148
HP:0000602	HP:0000602	Ophthalmoplegia	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0000602	HP:0000602	Ophthalmoplegia	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0000602	HP:0000602	Ophthalmoplegia	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		52
HP:0000602	HP:0000602	Ophthalmoplegia	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0000602	HP:0000602	Ophthalmoplegia	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		120
HP:0000602	HP:0000602	Ophthalmoplegia	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0000602	HP:0000602	Ophthalmoplegia	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional		35
HP:0000602	HP:0000602	Ophthalmoplegia	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000602	HP:0000602	Ophthalmoplegia	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0000602	HP:0000602	Ophthalmoplegia	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0000602	HP:0000602	Ophthalmoplegia	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		13
HP:0000602	HP:0000602	Ophthalmoplegia	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0000602	HP:0000602	Ophthalmoplegia	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		42
HP:0000602	HP:0000602	Ophthalmoplegia	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional		196
HP:0000602	HP:0000602	Ophthalmoplegia	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	HP:0040283 - Occasional		411
HP:0000602	HP:0000602	Ophthalmoplegia	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0000602	HP:0000602	Ophthalmoplegia	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0000602	HP:0000602	Ophthalmoplegia	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0000602	HP:0000602	Ophthalmoplegia	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0000602	HP:0000602	Ophthalmoplegia	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		62
HP:0000602	HP:0000602	Ophthalmoplegia	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000602	HP:0000602	Ophthalmoplegia	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000602	HP:0000602	Ophthalmoplegia	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		53
HP:0000602	HP:0000602	Ophthalmoplegia	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	HP:0040284 - Very rare		3
HP:0000602	HP:0000602	Ophthalmoplegia	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000602	HP:0000602	Ophthalmoplegia	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		75
HP:0000602	HP:0000602	Ophthalmoplegia	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0000602	HP:0000602	Ophthalmoplegia	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0000602	HP:0000602	Ophthalmoplegia	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0000602	HP:0000602	Ophthalmoplegia	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0000602	HP:0000602	Ophthalmoplegia	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040283 - Occasional		14
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040283 - Occasional
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0000602	HP:0000602	Ophthalmoplegia	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.		72
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.		105
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	HP:0040284 - Very rare
HP:0000602	HP:0000602	Ophthalmoplegia	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000602	HP:0000602	Ophthalmoplegia	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		745
HP:0000602	HP:0000602	Ophthalmoplegia	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0000602	HP:0000602	Ophthalmoplegia	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0000602	HP:0000602	Ophthalmoplegia	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000602	HP:0000602	Ophthalmoplegia	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000602	HP:0000602	Ophthalmoplegia	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000602	HP:0000602	Ophthalmoplegia	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		58
HP:0000602	HP:0000602	Ophthalmoplegia	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional		102
HP:0000602	HP:0000602	Ophthalmoplegia	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0000602	HP:0000602	Ophthalmoplegia	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000602	HP:0000602	Ophthalmoplegia	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000602	HP:0000602	Ophthalmoplegia	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		201
HP:0000602	HP:0000602	Ophthalmoplegia	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000602	HP:0000602	Ophthalmoplegia	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0000602	HP:0000602	Ophthalmoplegia	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000602	HP:0000602	Ophthalmoplegia	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000602	HP:0000602	Ophthalmoplegia	0	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040281 - Very frequent		10
HP:0000602	HP:0000602	Ophthalmoplegia	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		116
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		126
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		18
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0000602	HP:0000602	Ophthalmoplegia	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0000602	HP:0000602	Ophthalmoplegia	0	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000602	HP:0000602	Ophthalmoplegia	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	HP:0040283 - Occasional		77
HP:0000602	HP:0000602	Ophthalmoplegia	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0000602	HP:0000602	Ophthalmoplegia	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040281 - Very frequent		77
HP:0000602	HP:0000602	Ophthalmoplegia	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000602	HP:0000602	Ophthalmoplegia	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0000602	HP:0000602	Ophthalmoplegia	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional		7
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent		464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000602	HP:0000602	Ophthalmoplegia	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		180
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		39
HP:0000602	HP:0000602	Ophthalmoplegia	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		110
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		70
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		51
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		94
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		159
HP:0000602	HP:0000602	Ophthalmoplegia	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		108
HP:0000602	HP:0000602	Ophthalmoplegia	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0000602	HP:0000602	Ophthalmoplegia	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0000602	HP:0000602	Ophthalmoplegia	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent		3
HP:0000602	HP:0000602	Ophthalmoplegia	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0000602	HP:0000602	Ophthalmoplegia	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		107
HP:0000602	HP:0000602	Ophthalmoplegia	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000602	HP:0000602	Ophthalmoplegia	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0000602	HP:0000602	Ophthalmoplegia	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000602	HP:0000602	Ophthalmoplegia	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0000602	HP:0000602	Ophthalmoplegia	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000602	HP:0000602	Ophthalmoplegia	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		38
HP:0000602	HP:0000602	Ophthalmoplegia	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		111
HP:0000602	HP:0000602	Ophthalmoplegia	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		284
HP:0000602	HP:0000602	Ophthalmoplegia	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0000602	HP:0000602	Ophthalmoplegia	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0000602	HP:0000602	Ophthalmoplegia	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		129
HP:0000602	HP:0000602	Ophthalmoplegia	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		200
HP:0000602	HP:0000602	Ophthalmoplegia	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000602	HP:0000602	Ophthalmoplegia	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0000602	HP:0000602	Ophthalmoplegia	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000602	HP:0000602	Ophthalmoplegia	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0000602	HP:0000602	Ophthalmoplegia	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0000602	HP:0000602	Ophthalmoplegia	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040283 - Occasional		1200
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040284 - Very rare		1200
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0000602	HP:0000602	Ophthalmoplegia	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		32
HP:0000602	HP:0000602	Ophthalmoplegia	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000602	HP:0000602	Ophthalmoplegia	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	HP:0040283 - Occasional		16
HP:0000602	HP:0000602	Ophthalmoplegia	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000602	HP:0000602	Ophthalmoplegia	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040283 - Occasional		263
HP:0000602	HP:0000602	Ophthalmoplegia	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0000602	HP:0000602	Ophthalmoplegia	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0000602	HP:0000602	Ophthalmoplegia	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0000602	HP:0000602	Ophthalmoplegia	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0000602	HP:0000602	Ophthalmoplegia	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0000602	HP:0000602	Ophthalmoplegia	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0000602	HP:0000602	Ophthalmoplegia	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000602	HP:0000602	Ophthalmoplegia	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000602	HP:0000602	Ophthalmoplegia	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000602	HP:0000602	Ophthalmoplegia	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		83
HP:0000602	HP:0000602	Ophthalmoplegia	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0000602	HP:0000602	Ophthalmoplegia	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0000602	HP:0000602	Ophthalmoplegia	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0000602	HP:0000602	Ophthalmoplegia	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0000602	HP:0000602	Ophthalmoplegia	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000602	HP:0000602	Ophthalmoplegia	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000602	HP:0000602	Ophthalmoplegia	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0000602	HP:0000602	Ophthalmoplegia	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000602	HP:0000602	Ophthalmoplegia	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0000602	HP:0000602	Ophthalmoplegia	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0000602	HP:0000602	Ophthalmoplegia	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0000602	HP:0000602	Ophthalmoplegia	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0000602	HP:0000602	Ophthalmoplegia	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000602	HP:0000602	Ophthalmoplegia	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000602	HP:0000602	Ophthalmoplegia	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000602	HP:0000602	Ophthalmoplegia	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0000602	HP:0000602	Ophthalmoplegia	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000602	HP:0000602	Ophthalmoplegia	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		61
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		108
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000602	HP:0000602	Ophthalmoplegia	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000602	HP:0000602	Ophthalmoplegia	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040282 - Frequent		1
HP:0000602	HP:0000602	Ophthalmoplegia	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		41
HP:0000602	HP:0000602	Ophthalmoplegia	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0000602	HP:0000602	Ophthalmoplegia	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0000602	HP:0000602	Ophthalmoplegia	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000602	HP:0000602	Ophthalmoplegia	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		66
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia	HP:0040281 - Very frequent		113
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.		113
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000602	HP:0000602	Ophthalmoplegia	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000602	HP:0000602	Ophthalmoplegia	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0000602	HP:0000602	Ophthalmoplegia	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		777
HP:0000602	HP:0000602	Ophthalmoplegia	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0000602	HP:0000602	Ophthalmoplegia	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0000602	HP:0000602	Ophthalmoplegia	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0000602	HP:0000602	Ophthalmoplegia	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000602	HP:0000602	Ophthalmoplegia	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0000602	HP:0000602	Ophthalmoplegia	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		27
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CL E G H
HP:0000602	HP:0000544	External ophthalmoplegia	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	HP:0040283 - Occasional		90
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000602	HP:0000544	External ophthalmoplegia	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000602	HP:0000544	External ophthalmoplegia	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000602	HP:0000544	External ophthalmoplegia	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0000602	HP:0000544	External ophthalmoplegia	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0000602	HP:0000544	External ophthalmoplegia	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000602	HP:0000544	External ophthalmoplegia	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0000602	HP:0000544	External ophthalmoplegia	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.		8
HP:0000602	HP:0000544	External ophthalmoplegia	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0000602	HP:0000544	External ophthalmoplegia	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000602	HP:0000544	External ophthalmoplegia	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000602	HP:0000544	External ophthalmoplegia	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000602	HP:0000544	External ophthalmoplegia	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0000602	HP:0000544	External ophthalmoplegia	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0000602	HP:0000544	External ophthalmoplegia	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0000602	HP:0000544	External ophthalmoplegia	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0000602	HP:0000544	External ophthalmoplegia	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional		76
HP:0000602	HP:0000544	External ophthalmoplegia	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000602	HP:0000544	External ophthalmoplegia	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000602	HP:0000544	External ophthalmoplegia	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000602	HP:0007824	Total ophthalmoplegia	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0000602	HP:0000544	External ophthalmoplegia	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000602	HP:0000544	External ophthalmoplegia	1	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000602	HP:0000544	External ophthalmoplegia	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		1
HP:0000602	HP:0000544	External ophthalmoplegia	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000602	HP:0000544	External ophthalmoplegia	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000602	HP:0000544	External ophthalmoplegia	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0000602	HP:0000544	External ophthalmoplegia	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0000602	HP:0000544	External ophthalmoplegia	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0000602	HP:0000544	External ophthalmoplegia	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0000602	HP:0000544	External ophthalmoplegia	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0000602	HP:0000544	External ophthalmoplegia	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0000602	HP:0000544	External ophthalmoplegia	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0000602	HP:0000544	External ophthalmoplegia	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000602	HP:0000544	External ophthalmoplegia	1	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.	HP:0003577 - Congenital onset
HP:0000602	HP:0000544	External ophthalmoplegia	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0000602	HP:0000544	External ophthalmoplegia	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	HP:0040284 - Very rare		26
HP:0000602	HP:0000544	External ophthalmoplegia	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000602	HP:0000544	External ophthalmoplegia	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000602	HP:0000544	External ophthalmoplegia	1	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000602	HP:0000544	External ophthalmoplegia	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000602	HP:0000544	External ophthalmoplegia	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000602	HP:0000544	External ophthalmoplegia	1	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		464
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		464
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000602	HP:0007824	Total ophthalmoplegia	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		45
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000602	HP:0000544	External ophthalmoplegia	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000602	HP:0000544	External ophthalmoplegia	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000602	HP:0000544	External ophthalmoplegia	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	.		90
HP:0000602	HP:0000544	External ophthalmoplegia	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000602	HP:0000544	External ophthalmoplegia	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		125
HP:0000602	HP:0000544	External ophthalmoplegia	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000602	HP:0000544	External ophthalmoplegia	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0000602	HP:0000544	External ophthalmoplegia	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		125
HP:0000602	HP:0000544	External ophthalmoplegia	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000602	HP:0000544	External ophthalmoplegia	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0000602	HP:0000544	External ophthalmoplegia	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0000602	HP:0000544	External ophthalmoplegia	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0000602	HP:0000544	External ophthalmoplegia	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.		86
HP:0000602	HP:0000544	External ophthalmoplegia	1	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.		263
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.		110
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		68
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0000602	HP:0000544	External ophthalmoplegia	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	HP:0040283 - Occasional		31
HP:0000602	HP:0000544	External ophthalmoplegia	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000602	HP:0000544	External ophthalmoplegia	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		103
HP:0000602	HP:0000544	External ophthalmoplegia	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000602	HP:0000544	External ophthalmoplegia	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0000602	HP:0000544	External ophthalmoplegia	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0000602	HP:0000544	External ophthalmoplegia	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000602	HP:0000544	External ophthalmoplegia	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000602	HP:0000544	External ophthalmoplegia	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		113
HP:0000602	HP:0000544	External ophthalmoplegia	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000602	HP:0000544	External ophthalmoplegia	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000602	HP:0000544	External ophthalmoplegia	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000602	HP:0000544	External ophthalmoplegia	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		138
HP:0000602	HP:0000544	External ophthalmoplegia	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CL E G H
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	HP:0040283 - Occasional		90
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040281 - Very frequent		14
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040281 - Very frequent		14
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040281 - Very frequent		14
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent		57
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040281 - Very frequent		41
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.		93
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040281 - Very frequent		11
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent		214
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.		464
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040280 - Obligate		3
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040280 - Obligate		125
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent		125
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.		125
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.		103
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040282 - Frequent
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.		64
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20	HP:0040283 - Occasional		56
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CL E G H