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:0000597	HP:0000597	Ophthalmoparesis	0	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0000597	Ophthalmoparesis	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0000597	Ophthalmoparesis	0	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0000597	Ophthalmoparesis	0	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0000597	Ophthalmoparesis	0	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0000597	Ophthalmoparesis	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0000597	Ophthalmoparesis	0	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0000597	Ophthalmoparesis	0	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0000597	Ophthalmoparesis	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0000597	Ophthalmoparesis	0	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0000597	Ophthalmoparesis	0	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0000597	Ophthalmoparesis	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0000597	Ophthalmoparesis	0	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0000597	Ophthalmoparesis	0	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0000597	Ophthalmoparesis	0	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0000597	Ophthalmoparesis	0	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0000597	Ophthalmoparesis	0	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0000597	Ophthalmoparesis	0	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0000597	Ophthalmoparesis	0	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0000597	Ophthalmoparesis	0	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0000597	Ophthalmoparesis	0	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0000597	Ophthalmoparesis	0	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0000597	Ophthalmoparesis	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0000597	Ophthalmoparesis	0	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0000597	Ophthalmoparesis	0	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0007715	Weak extraocular muscles	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0008507	Static ophthalmoparesis	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0000602	Ophthalmoplegia	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0008507	Static ophthalmoparesis	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0000602	Ophthalmoplegia	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007715	Weak extraocular muscles	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007715	Weak extraocular muscles	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0008507	Static ophthalmoparesis	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0000602	Ophthalmoplegia	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0008507	Static ophthalmoparesis	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0000602	Ophthalmoplegia	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0007715	Weak extraocular muscles	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0007715	Weak extraocular muscles	1	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0008507	Static ophthalmoparesis	1	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0000602	Ophthalmoplegia	1	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0007715	Weak extraocular muscles	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0000602	Ophthalmoplegia	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0000602	Ophthalmoplegia	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007715	Weak extraocular muscles	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0008507	Static ophthalmoparesis	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007715	Weak extraocular muscles	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0008507	Static ophthalmoparesis	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0000602	Ophthalmoplegia	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0007715	Weak extraocular muscles	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0008507	Static ophthalmoparesis	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0000602	Ophthalmoplegia	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0007715	Weak extraocular muscles	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0008507	Static ophthalmoparesis	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0000602	Ophthalmoplegia	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0000602	Ophthalmoplegia	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007715	Weak extraocular muscles	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0008507	Static ophthalmoparesis	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007715	Weak extraocular muscles	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0008507	Static ophthalmoparesis	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0000602	Ophthalmoplegia	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0008507	Static ophthalmoparesis	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0000602	Ophthalmoplegia	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0007715	Weak extraocular muscles	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0000602	Ophthalmoplegia	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007715	Weak extraocular muscles	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0008507	Static ophthalmoparesis	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0008507	Static ophthalmoparesis	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0000602	Ophthalmoplegia	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0007715	Weak extraocular muscles	1	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0007715	Weak extraocular muscles	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0008507	Static ophthalmoparesis	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0000602	Ophthalmoplegia	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0000602	Ophthalmoplegia	1	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0007715	Weak extraocular muscles	1	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0000602	Ophthalmoplegia	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007715	Weak extraocular muscles	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007715	Weak extraocular muscles	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0008507	Static ophthalmoparesis	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0000602	Ophthalmoplegia	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0008507	Static ophthalmoparesis	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0000602	Ophthalmoplegia	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0007715	Weak extraocular muscles	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0000602	Ophthalmoplegia	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0007715	Weak extraocular muscles	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0008507	Static ophthalmoparesis	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0007715	Weak extraocular muscles	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0008507	Static ophthalmoparesis	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0000602	Ophthalmoplegia	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007715	Weak extraocular muscles	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0008507	Static ophthalmoparesis	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0000602	Ophthalmoplegia	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0008507	Static ophthalmoparesis	1	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0000602	Ophthalmoplegia	1	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0007715	Weak extraocular muscles	1	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0008507	Static ophthalmoparesis	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0000602	Ophthalmoplegia	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0007715	Weak extraocular muscles	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0007824	Total ophthalmoplegia	2	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0000544	External ophthalmoplegia	2	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0000544	External ophthalmoplegia	2	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007824	Total ophthalmoplegia	2	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0000544	External ophthalmoplegia	2	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0007824	Total ophthalmoplegia	2	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0000544	External ophthalmoplegia	2	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0007824	Total ophthalmoplegia	2	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0000544	External ophthalmoplegia	2	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0007824	Total ophthalmoplegia	2	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0000544	External ophthalmoplegia	2	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007824	Total ophthalmoplegia	2	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0000544	External ophthalmoplegia	2	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0000544	External ophthalmoplegia	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0007824	Total ophthalmoplegia	2	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0000544	External ophthalmoplegia	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0007824	Total ophthalmoplegia	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0007824	Total ophthalmoplegia	2	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0000544	External ophthalmoplegia	2	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007824	Total ophthalmoplegia	2	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0000544	External ophthalmoplegia	2	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0000544	External ophthalmoplegia	2	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0007824	Total ophthalmoplegia	2	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0000544	External ophthalmoplegia	2	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0007824	Total ophthalmoplegia	2	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007824	Total ophthalmoplegia	2	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0000544	External ophthalmoplegia	2	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0000544	External ophthalmoplegia	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0007824	Total ophthalmoplegia	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0000544	External ophthalmoplegia	2	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0007824	Total ophthalmoplegia	2	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0000544	External ophthalmoplegia	2	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0000544	External ophthalmoplegia	2	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0000544	External ophthalmoplegia	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0007824	Total ophthalmoplegia	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0000544	External ophthalmoplegia	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0007824	Total ophthalmoplegia	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0007824	Total ophthalmoplegia	2	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0000544	External ophthalmoplegia	2	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0007824	Total ophthalmoplegia	2	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0000544	External ophthalmoplegia	2	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007824	Total ophthalmoplegia	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0000544	External ophthalmoplegia	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0000544	External ophthalmoplegia	2	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0007824	Total ophthalmoplegia	2	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0000544	External ophthalmoplegia	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0007824	Total ophthalmoplegia	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	ATN1 CL E G H	1822	101				ORPHA	1	213	3033	607462
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	COLQ CL E G H	8292	98915				ORPHA	1	542	2226	603033
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	LAMB2 CL E G H	3913	98915				ORPHA	1	915	6487	150325
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MAPT CL E G H	4137	260540	Parkinson-dementia syndrome	260540	C1850077	OMIM	1	581	6893	157140
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	1	63	9652	600716
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000597	HP:0000597	Ophthalmoparesis	0	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0000597	Ophthalmoparesis	0	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0000597	Ophthalmoparesis	0	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0000597	Ophthalmoparesis	0	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0000597	Ophthalmoparesis	0	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0000597	Ophthalmoparesis	0	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0000597	Ophthalmoparesis	0	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000597	Ophthalmoparesis	0	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0007715	Weak extraocular muscles	1	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0008507	Static ophthalmoparesis	1	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0000602	Ophthalmoplegia	1	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0000602	Ophthalmoplegia	1	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007715	Weak extraocular muscles	1	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0008507	Static ophthalmoparesis	1	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007715	Weak extraocular muscles	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0008507	Static ophthalmoparesis	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0000602	Ophthalmoplegia	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007715	Weak extraocular muscles	1	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0008507	Static ophthalmoparesis	1	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0000602	Ophthalmoplegia	1	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007715	Weak extraocular muscles	1	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0008507	Static ophthalmoparesis	1	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0000602	Ophthalmoplegia	1	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0000602	Ophthalmoplegia	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0007715	Weak extraocular muscles	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0008507	Static ophthalmoparesis	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000602	Ophthalmoplegia	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007715	Weak extraocular muscles	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0012246	Oculomotor nerve palsy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0008507	Static ophthalmoparesis	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007715	Weak extraocular muscles	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0012470	Setting-sun eye phenomenon	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0008507	Static ophthalmoparesis	1	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000602	Ophthalmoplegia	1	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0007824	Total ophthalmoplegia	2	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0000544	External ophthalmoplegia	2	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007824	Total ophthalmoplegia	2	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0000544	External ophthalmoplegia	2	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0000544	External ophthalmoplegia	2	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0007824	Total ophthalmoplegia	2	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0007824	Total ophthalmoplegia	2	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0000544	External ophthalmoplegia	2	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0000544	External ophthalmoplegia	2	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0007824	Total ophthalmoplegia	2	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0007824	Total ophthalmoplegia	2	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0000544	External ophthalmoplegia	2	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007824	Total ophthalmoplegia	2	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007942	Internal ophthalmoplegia	2	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007824	Total ophthalmoplegia	2	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000623	Supranuclear ophthalmoplegia	2	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000544	External ophthalmoplegia	2	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0030773	Internuclear ophthalmoplegia	2	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007650	Progressive ophthalmoplegia	2	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000544	External ophthalmoplegia	2	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0000590	Progressive external ophthalmoplegia	3	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	3	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007936	Restrictive external ophthalmoplegia	3	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007250	Recurrent external ophthalmoplegia	3	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	CACNA1S CL E G H	779	79102				ORPHA	0	1886	1397	114208
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	0	1000	26594	610285
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	GABRA3 CL E G H	2556	79102				ORPHA	0	219	4077	305660
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	KCNJ18 CL E G H	100134444	79102				ORPHA	0	11	39080	613236
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	SCN4A CL E G H	6329	682				ORPHA	0	1765	10591	603967
HP:0000597	HP:0007867	Restrictive partial external ophthalmoplegia	4	SCN4A CL E G H	6329	99734				ORPHA	0	1765	10591	603967