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:0000602	HP:0000602	Ophthalmoplegia	0	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0000602	Ophthalmoplegia	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0000602	Ophthalmoplegia	0	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0000602	Ophthalmoplegia	0	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0000602	Ophthalmoplegia	0	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0000602	Ophthalmoplegia	0	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0000602	Ophthalmoplegia	0	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0000602	Ophthalmoplegia	0	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0000602	Ophthalmoplegia	0	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0000602	Ophthalmoplegia	0	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0000602	Ophthalmoplegia	0	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0000602	Ophthalmoplegia	0	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0000602	Ophthalmoplegia	0	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0000602	Ophthalmoplegia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0000602	Ophthalmoplegia	0	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0000602	Ophthalmoplegia	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0000602	Ophthalmoplegia	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0000602	Ophthalmoplegia	0	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0000602	Ophthalmoplegia	0	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0000602	Ophthalmoplegia	0	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0000602	Ophthalmoplegia	0	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0000602	Ophthalmoplegia	0	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0000602	Ophthalmoplegia	0	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0000602	Ophthalmoplegia	0	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0000602	Ophthalmoplegia	0	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0000602	Ophthalmoplegia	0	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0000602	Ophthalmoplegia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0000602	Ophthalmoplegia	0	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0000602	Ophthalmoplegia	0	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0000602	Ophthalmoplegia	0	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0000602	Ophthalmoplegia	0	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0000602	Ophthalmoplegia	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0000602	Ophthalmoplegia	0	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0000602	Ophthalmoplegia	0	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0000602	Ophthalmoplegia	0	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0000602	Ophthalmoplegia	0	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0000602	Ophthalmoplegia	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0000602	Ophthalmoplegia	0	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0000602	Ophthalmoplegia	0	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0000602	Ophthalmoplegia	0	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0000602	Ophthalmoplegia	0	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0000602	Ophthalmoplegia	0	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0000602	Ophthalmoplegia	0	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0000602	Ophthalmoplegia	0	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0000602	Ophthalmoplegia	0	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0000602	Ophthalmoplegia	0	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0000602	Ophthalmoplegia	0	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0000602	Ophthalmoplegia	0	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0000602	Ophthalmoplegia	0	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0000602	Ophthalmoplegia	0	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0000602	Ophthalmoplegia	0	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0000602	Ophthalmoplegia	0	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0000602	Ophthalmoplegia	0	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0000602	Ophthalmoplegia	0	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0000602	Ophthalmoplegia	0	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0000602	Ophthalmoplegia	0	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0000602	Ophthalmoplegia	0	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0000602	Ophthalmoplegia	0	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0000602	Ophthalmoplegia	0	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0000602	Ophthalmoplegia	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0000602	Ophthalmoplegia	0	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0000602	Ophthalmoplegia	0	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0000602	Ophthalmoplegia	0	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0000602	Ophthalmoplegia	0	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0000602	Ophthalmoplegia	0	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0000602	Ophthalmoplegia	0	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0000602	Ophthalmoplegia	0	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0000602	Ophthalmoplegia	0	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0000602	Ophthalmoplegia	0	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0000602	Ophthalmoplegia	0	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0000602	Ophthalmoplegia	0	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0000602	Ophthalmoplegia	0	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0000602	Ophthalmoplegia	0	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0000602	Ophthalmoplegia	0	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0000602	Ophthalmoplegia	0	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0000602	Ophthalmoplegia	0	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0000602	Ophthalmoplegia	0	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0000602	Ophthalmoplegia	0	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0000602	Ophthalmoplegia	0	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0000602	Ophthalmoplegia	0	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0000602	Ophthalmoplegia	0	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0000602	Ophthalmoplegia	0	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0000602	Ophthalmoplegia	0	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0000602	Ophthalmoplegia	0	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0000602	Ophthalmoplegia	0	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0000602	Ophthalmoplegia	0	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0000602	Ophthalmoplegia	0	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0000602	Ophthalmoplegia	0	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0000602	Ophthalmoplegia	0	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0000602	Ophthalmoplegia	0	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0000602	Ophthalmoplegia	0	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0000602	Ophthalmoplegia	0	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0000602	Ophthalmoplegia	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0000602	Ophthalmoplegia	0	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0000602	Ophthalmoplegia	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0000602	Ophthalmoplegia	0	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0000602	Ophthalmoplegia	0	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0000602	Ophthalmoplegia	0	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0000602	Ophthalmoplegia	0	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0000602	Ophthalmoplegia	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0000602	Ophthalmoplegia	0	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0000602	Ophthalmoplegia	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0000602	Ophthalmoplegia	0	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0000602	Ophthalmoplegia	0	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0000602	Ophthalmoplegia	0	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0000602	Ophthalmoplegia	0	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0000602	Ophthalmoplegia	0	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0000602	Ophthalmoplegia	0	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0000602	Ophthalmoplegia	0	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0000602	Ophthalmoplegia	0	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0000602	Ophthalmoplegia	0	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0000602	Ophthalmoplegia	0	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0000602	Ophthalmoplegia	0	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0000602	Ophthalmoplegia	0	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0000544	External ophthalmoplegia	1	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0000544	External ophthalmoplegia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0000544	External ophthalmoplegia	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0000544	External ophthalmoplegia	1	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0007824	Total ophthalmoplegia	1	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0007824	Total ophthalmoplegia	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0000544	External ophthalmoplegia	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0000544	External ophthalmoplegia	1	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0007824	Total ophthalmoplegia	1	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0000544	External ophthalmoplegia	1	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0007824	Total ophthalmoplegia	1	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0000544	External ophthalmoplegia	1	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0000544	External ophthalmoplegia	1	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0000544	External ophthalmoplegia	1	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0000544	External ophthalmoplegia	1	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0000544	External ophthalmoplegia	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0000544	External ophthalmoplegia	1	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0000544	External ophthalmoplegia	1	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0007824	Total ophthalmoplegia	1	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0007824	Total ophthalmoplegia	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0000544	External ophthalmoplegia	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0007824	Total ophthalmoplegia	1	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0000544	External ophthalmoplegia	1	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0007824	Total ophthalmoplegia	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0000544	External ophthalmoplegia	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0000544	External ophthalmoplegia	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0007824	Total ophthalmoplegia	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0007824	Total ophthalmoplegia	1	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0000544	External ophthalmoplegia	1	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0000544	External ophthalmoplegia	1	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0000544	External ophthalmoplegia	1	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0000544	External ophthalmoplegia	1	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0000544	External ophthalmoplegia	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0000544	External ophthalmoplegia	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0000544	External ophthalmoplegia	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0000544	External ophthalmoplegia	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0000544	External ophthalmoplegia	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0000544	External ophthalmoplegia	1	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0000544	External ophthalmoplegia	1	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0000544	External ophthalmoplegia	1	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0007824	Total ophthalmoplegia	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0000544	External ophthalmoplegia	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0007824	Total ophthalmoplegia	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0000544	External ophthalmoplegia	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0007824	Total ophthalmoplegia	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0000544	External ophthalmoplegia	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0007824	Total ophthalmoplegia	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0000544	External ophthalmoplegia	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0000544	External ophthalmoplegia	1	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0000544	External ophthalmoplegia	1	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0007824	Total ophthalmoplegia	1	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0000544	External ophthalmoplegia	1	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0007824	Total ophthalmoplegia	1	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0000544	External ophthalmoplegia	1	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0000544	External ophthalmoplegia	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0007824	Total ophthalmoplegia	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0000544	External ophthalmoplegia	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0007824	Total ophthalmoplegia	1	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0000544	External ophthalmoplegia	1	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0007824	Total ophthalmoplegia	1	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0000544	External ophthalmoplegia	1	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0000544	External ophthalmoplegia	1	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0007824	Total ophthalmoplegia	1	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0007824	Total ophthalmoplegia	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0000544	External ophthalmoplegia	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0007824	Total ophthalmoplegia	1	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0000544	External ophthalmoplegia	1	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0007824	Total ophthalmoplegia	1	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0007824	Total ophthalmoplegia	1	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0000544	External ophthalmoplegia	1	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0000544	External ophthalmoplegia	1	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0007824	Total ophthalmoplegia	1	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0000544	External ophthalmoplegia	1	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0007824	Total ophthalmoplegia	1	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0000544	External ophthalmoplegia	1	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0007824	Total ophthalmoplegia	1	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0000544	External ophthalmoplegia	1	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0007824	Total ophthalmoplegia	1	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0000544	External ophthalmoplegia	1	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0007824	Total ophthalmoplegia	1	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0000544	External ophthalmoplegia	1	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0007824	Total ophthalmoplegia	1	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0000544	External ophthalmoplegia	1	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0007824	Total ophthalmoplegia	1	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0000544	External ophthalmoplegia	1	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0007824	Total ophthalmoplegia	1	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0000544	External ophthalmoplegia	1	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0007824	Total ophthalmoplegia	1	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0000544	External ophthalmoplegia	1	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0007824	Total ophthalmoplegia	1	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0000544	External ophthalmoplegia	1	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0007824	Total ophthalmoplegia	1	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0000544	External ophthalmoplegia	1	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0007824	Total ophthalmoplegia	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0000544	External ophthalmoplegia	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0000544	External ophthalmoplegia	1	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0007824	Total ophthalmoplegia	1	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0007824	Total ophthalmoplegia	1	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0000544	External ophthalmoplegia	1	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0000544	External ophthalmoplegia	1	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0000544	External ophthalmoplegia	1	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0000544	External ophthalmoplegia	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0000544	External ophthalmoplegia	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0000544	External ophthalmoplegia	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0000544	External ophthalmoplegia	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0000544	External ophthalmoplegia	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0000544	External ophthalmoplegia	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0000544	External ophthalmoplegia	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0000544	External ophthalmoplegia	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0000544	External ophthalmoplegia	1	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0000544	External ophthalmoplegia	1	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0000544	External ophthalmoplegia	1	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0007824	Total ophthalmoplegia	1	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0000544	External ophthalmoplegia	1	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0007824	Total ophthalmoplegia	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0000544	External ophthalmoplegia	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0000544	External ophthalmoplegia	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0000544	External ophthalmoplegia	1	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0000544	External ophthalmoplegia	1	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0000544	External ophthalmoplegia	1	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0000544	External ophthalmoplegia	1	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0000544	External ophthalmoplegia	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0000544	External ophthalmoplegia	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0000544	External ophthalmoplegia	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0000544	External ophthalmoplegia	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0000544	External ophthalmoplegia	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0000544	External ophthalmoplegia	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0007824	Total ophthalmoplegia	1	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0000544	External ophthalmoplegia	1	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0007824	Total ophthalmoplegia	1	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0000544	External ophthalmoplegia	1	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0000544	External ophthalmoplegia	1	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0000544	External ophthalmoplegia	1	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0000544	External ophthalmoplegia	1	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0000544	External ophthalmoplegia	1	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0000544	External ophthalmoplegia	1	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0000544	External ophthalmoplegia	1	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0000544	External ophthalmoplegia	1	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0000544	External ophthalmoplegia	1	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0000544	External ophthalmoplegia	1	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0000544	External ophthalmoplegia	1	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0007824	Total ophthalmoplegia	1	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0000544	External ophthalmoplegia	1	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0000544	External ophthalmoplegia	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0007824	Total ophthalmoplegia	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0000544	External ophthalmoplegia	1	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0000544	External ophthalmoplegia	1	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0000544	External ophthalmoplegia	1	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0000544	External ophthalmoplegia	1	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0000544	External ophthalmoplegia	1	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0000544	External ophthalmoplegia	1	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0000544	External ophthalmoplegia	1	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0000544	External ophthalmoplegia	1	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0000544	External ophthalmoplegia	1	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0000544	External ophthalmoplegia	1	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0000544	External ophthalmoplegia	1	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0000544	External ophthalmoplegia	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0000544	External ophthalmoplegia	1	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0000544	External ophthalmoplegia	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0000544	External ophthalmoplegia	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0000544	External ophthalmoplegia	1	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0000544	External ophthalmoplegia	1	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0000544	External ophthalmoplegia	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0000544	External ophthalmoplegia	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0000544	External ophthalmoplegia	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0000544	External ophthalmoplegia	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0000544	External ophthalmoplegia	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0000544	External ophthalmoplegia	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0000544	External ophthalmoplegia	1	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0000544	External ophthalmoplegia	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0000544	External ophthalmoplegia	1	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0000544	External ophthalmoplegia	1	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0000544	External ophthalmoplegia	1	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0000544	External ophthalmoplegia	1	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0000544	External ophthalmoplegia	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0000544	External ophthalmoplegia	1	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0007824	Total ophthalmoplegia	1	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0000544	External ophthalmoplegia	1	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0007824	Total ophthalmoplegia	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0000544	External ophthalmoplegia	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0000544	External ophthalmoplegia	1	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0000544	External ophthalmoplegia	1	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ABCA4 CL E G H	24	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3233	34	601691
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	533	1839	607575
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	AGBL5 CL E G H	60509	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	601	26147	615900
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	AHI1 CL E G H	54806	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1194	21575	608894
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	AHR CL E G H	196	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	479	348	600253
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ARHGEF18 CL E G H	23370	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	912	17090	616432
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ARL2BP CL E G H	23568	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	113	17146	615407
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ARL3 CL E G H	403	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	137	694	604695
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ARL6 CL E G H	84100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	201	13210	608845
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	BBS2 CL E G H	583	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	894	967	606151
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	BEST1 CL E G H	7439	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	793	12703	607854
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	C8orf37 CL E G H	157657	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1		27232	614477
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CA4 CL E G H	762	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	283	1375	114760
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CDHR1 CL E G H	92211	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	890	14550	609502
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CERKL CL E G H	375298	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	782	21699	608381
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CLRN1 CL E G H	7401	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	12605	606397
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CNGA1 CL E G H	1259	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	456	2148	123825
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CNGB1 CL E G H	1258	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1179	2151	600724
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CRB1 CL E G H	23418	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1633	2343	604210
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CRX CL E G H	1406	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	499	2383	602225
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	DHDDS CL E G H	79947	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	434	20603	608172
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	DHX38 CL E G H	9785	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	764	17211	605584
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	EYS CL E G H	346007	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	3830	21555	612424
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	FAM161A CL E G H	84140	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	699	25808	613596
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	130	3642	103270
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	FSCN2 CL E G H	25794	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	580	3960	607643
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	GUCA1B CL E G H	2979	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	215	4679	602275
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	HGSNAT CL E G H	138050	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1049	26527	610453
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	IDH3B CL E G H	3420	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	299	5385	604526
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	IFT140 CL E G H	9742	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1686	29077	614620
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	IFT172 CL E G H	26160	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1356	30391	607386
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	IFT88 CL E G H	8100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	390	20606	600595
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	IMPDH1 CL E G H	3614	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	542	6052	146690
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	IMPG2 CL E G H	50939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	909	18362	607056
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	KIAA1549 CL E G H	57670	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1327	22219	613344
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	KIZ CL E G H	55857	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	416	15865	615757
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	KLHL7 CL E G H	55975	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	337	15646	611119
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	LRAT CL E G H	9227	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	242	6685	604863
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MAK CL E G H	4117	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	445	6816	154235
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MERTK CL E G H	10461	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	815	7027	604705
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	1	1161	7572	160740
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NEK2 CL E G H	4751	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	216	7745	604043
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NR2E3 CL E G H	10002	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	607	7974	604485
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NRL CL E G H	4901	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	358	8002	162080
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	OFD1 CL E G H	8481	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1020	2567	300170
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PCARE CL E G H	388939	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1022	34383	613425
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PDE6A CL E G H	5145	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	834	8785	180071
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PDE6B CL E G H	5158	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1142	8786	180072
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PDE6G CL E G H	5148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	125	8789	180073
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	POMGNT1 CL E G H	55624	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1174	19139	606822
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PRCD CL E G H	768206	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	144	32528	610598
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PROM1 CL E G H	8842	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	928	9454	604365
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PRPF3 CL E G H	9129	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	325	17348	607301
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PRPF31 CL E G H	26121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	629	15446	606419
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PRPF4 CL E G H	9128	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	305	17349	607795
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PRPF6 CL E G H	24148	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	581	15860	613979
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PRPF8 CL E G H	10594	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1240	17340	607300
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PRPH2 CL E G H	5961	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	702	9942	179605
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RBP3 CL E G H	5949	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1038	9921	180290
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RDH12 CL E G H	145226	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	495	19977	608830
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	REEP6 CL E G H	92840	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	266	30078	609346
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RGR CL E G H	5995	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	279	9990	600342
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RHO CL E G H	6010	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	537	10012	180380
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RLBP1 CL E G H	6017	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	314	10024	180090
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ROM1 CL E G H	6094	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	311	10254	180721
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RP1 CL E G H	6101	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1318	10263	603937
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RP2 CL E G H	6102	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	484	10274	300757
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RP9 CL E G H	6100	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	132	10288	607331
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RPE65 CL E G H	6121	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	783	10294	180069
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RPGR CL E G H	6103	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1433	10295	312610
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SAG CL E G H	6295	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	430	10521	181031
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SCAPER CL E G H	49855	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	157	13081	611611
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SEMA4A CL E G H	64218	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	530	10729	607292
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SLC7A14 CL E G H	57709	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	461	29326	615720
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SLC9A6 CL E G H	10479	85278				ORPHA	1	612	11079	300231
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SNRNP200 CL E G H	23020	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	1073	30859	601664
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SPATA7 CL E G H	55812	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	432	20423	609868
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TOPORS CL E G H	10210	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	583	21653	609507
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TTC8 CL E G H	123016	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	427	20087	608132
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TUB CL E G H	7275	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	477	12406	601197
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TULP1 CL E G H	7287	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	587	12423	602280
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TWNK CL E G H	56652	1186				ORPHA	1	450	1160	606075
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TWNK CL E G H	56652	616138	Perrault syndrome 5	616138	C4015307	OMIM	1	450	1160	606075
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	USH2A CL E G H	7399	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	7040	12601	608400
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ZNF408 CL E G H	79797	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	494	20041	616454
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ZNF513 CL E G H	130557	791	Arthrogryposis multiplex congenita pulmonary hypoplasia			ORPHA	1	376	26498	613598
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0000602	Ophthalmoplegia	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0000602	Ophthalmoplegia	0	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0000602	Ophthalmoplegia	0	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0000602	Ophthalmoplegia	0	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0000602	Ophthalmoplegia	0	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0000602	Ophthalmoplegia	0	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0000602	Ophthalmoplegia	0	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0000602	Ophthalmoplegia	0	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0000602	Ophthalmoplegia	0	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0000602	Ophthalmoplegia	0	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0000602	Ophthalmoplegia	0	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0000602	Ophthalmoplegia	0	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0000602	Ophthalmoplegia	0	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0000602	Ophthalmoplegia	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0000602	Ophthalmoplegia	0	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0000602	Ophthalmoplegia	0	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0000602	Ophthalmoplegia	0	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0000602	Ophthalmoplegia	0	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0000602	Ophthalmoplegia	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0000602	Ophthalmoplegia	0	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0000602	Ophthalmoplegia	0	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000602	Ophthalmoplegia	0	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000602	Ophthalmoplegia	0	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0000602	Ophthalmoplegia	0	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000602	Ophthalmoplegia	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0000602	Ophthalmoplegia	0	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0000602	Ophthalmoplegia	0	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0000602	Ophthalmoplegia	0	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0000602	Ophthalmoplegia	0	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0000602	Ophthalmoplegia	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0000602	Ophthalmoplegia	0	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0000602	Ophthalmoplegia	0	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0000602	Ophthalmoplegia	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0000602	Ophthalmoplegia	0	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0000602	Ophthalmoplegia	0	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0000544	External ophthalmoplegia	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0000544	External ophthalmoplegia	1	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0000544	External ophthalmoplegia	1	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0000544	External ophthalmoplegia	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0007824	Total ophthalmoplegia	1	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0000544	External ophthalmoplegia	1	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0000544	External ophthalmoplegia	1	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0007824	Total ophthalmoplegia	1	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0007824	Total ophthalmoplegia	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0000544	External ophthalmoplegia	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0007824	Total ophthalmoplegia	1	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0000544	External ophthalmoplegia	1	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0007824	Total ophthalmoplegia	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0000544	External ophthalmoplegia	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0007824	Total ophthalmoplegia	1	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0000544	External ophthalmoplegia	1	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0007824	Total ophthalmoplegia	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0000544	External ophthalmoplegia	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0007824	Total ophthalmoplegia	1	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0000544	External ophthalmoplegia	1	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0007824	Total ophthalmoplegia	1	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0000544	External ophthalmoplegia	1	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007824	Total ophthalmoplegia	1	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007824	Total ophthalmoplegia	1	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0000544	External ophthalmoplegia	1	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0000544	External ophthalmoplegia	1	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0007824	Total ophthalmoplegia	1	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0000544	External ophthalmoplegia	1	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0000544	External ophthalmoplegia	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0007824	Total ophthalmoplegia	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0007824	Total ophthalmoplegia	1	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0000544	External ophthalmoplegia	1	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0000544	External ophthalmoplegia	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0000544	External ophthalmoplegia	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0000544	External ophthalmoplegia	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0000544	External ophthalmoplegia	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0000544	External ophthalmoplegia	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0007824	Total ophthalmoplegia	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0000544	External ophthalmoplegia	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000544	External ophthalmoplegia	1	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000544	External ophthalmoplegia	1	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0007824	Total ophthalmoplegia	1	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0000544	External ophthalmoplegia	1	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0007824	Total ophthalmoplegia	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0000544	External ophthalmoplegia	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000544	External ophthalmoplegia	1	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000544	External ophthalmoplegia	1	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000544	External ophthalmoplegia	1	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007824	Total ophthalmoplegia	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0000544	External ophthalmoplegia	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0000544	External ophthalmoplegia	1	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0000544	External ophthalmoplegia	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0000544	External ophthalmoplegia	1	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0000544	External ophthalmoplegia	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0000544	External ophthalmoplegia	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0007824	Total ophthalmoplegia	1	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0000544	External ophthalmoplegia	1	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0000544	External ophthalmoplegia	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0007824	Total ophthalmoplegia	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0000544	External ophthalmoplegia	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0000544	External ophthalmoplegia	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0000544	External ophthalmoplegia	1	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0000544	External ophthalmoplegia	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0000544	External ophthalmoplegia	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0007824	Total ophthalmoplegia	1	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0000544	External ophthalmoplegia	1	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0030773	Internuclear ophthalmoplegia	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0007942	Internal ophthalmoplegia	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0007824	Total ophthalmoplegia	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0000623	Supranuclear ophthalmoplegia	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0007650	Progressive ophthalmoplegia	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0000544	External ophthalmoplegia	1	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0007250	Recurrent external ophthalmoplegia	2	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0000590	Progressive external ophthalmoplegia	2	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	2	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0007936	Restrictive external ophthalmoplegia	2	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ACTA1 CL E G H	58	171430				ORPHA	0	506	129	102610
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ACTA1 CL E G H	58	171433				ORPHA	0	506	129	102610
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	506	129	102610
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	C12orf65 CL E G H	91574	320375				ORPHA	0		26784	613541
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	CISD2 CL E G H	493856	3463				ORPHA	0	71	24212	611507
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	FA2H CL E G H	79152	171629				ORPHA	0	381	21197	611026
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	622	5173	190020
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	KCND3 CL E G H	3752	98772				ORPHA	0	467	6239	605411
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	KLHL40 CL E G H	131377	171430				ORPHA	0	466	30372	615340
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	KLHL41 CL E G H	10324	171433				ORPHA	0	294	16905	607701
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	KLHL41 CL E G H	10324	171430				ORPHA	0	294	16905	607701
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	480	6407	190070
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	0	4179	6482	156225
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	LMOD3 CL E G H	56203	171430				ORPHA	0	392	6649	616112
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	0	1245	6946	603294
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	4106	7577	160760
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NEB CL E G H	4703	171433				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NEB CL E G H	4703	171430				ORPHA	0	8530	7720	161650
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	0	281	7989	164790
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	0	978	26270	613629
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RYR1 CL E G H	6261	597				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RYR1 CL E G H	6261	424107				ORPHA	0	6164	10483	180901
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	6164	10483	180901
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	0	1639	10542	603560
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SCN4A CL E G H	6329	99735				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	651	15999	606210
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	341	12011	190990
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TPM3 CL E G H	7170	171433				ORPHA	0	343	12012	191030
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	0	343	12012	191030
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0000602	HP:0007867	Restrictive partial external ophthalmoplegia	3	WFS1 CL E G H	7466	3463				ORPHA	0	1634	12762	606201