Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of eye movement (HP:0000496)help
..Starting node
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Ophthalmoparesis (HP:0000597)help
Term ID: 597
Name: Ophthalmoparesis
Synonym: Extraocular muscle palsy; Extraocular muscle paralysis; Weakness of extraocular eye movement; Weakness of muscles controlling eye movement
Definition: Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
Comments:
Reference: HP:0000597
Genes and Diseases:
 
       Child Nodes:
........expandOphthalmoplegia (HP:0000602) help
................... HP:0000544 External ophthalmoplegia
................... HP:0000623 Supranuclear ophthalmoplegia
................... HP:0007650 Progressive ophthalmoplegia
................... HP:0007824 Total ophthalmoplegia
................... HP:0007942 Internal ophthalmoplegia
................... HP:0030773 Internuclear ophthalmoplegia
........expandWeak extraocular muscles (HP:0007715) help
........expandStatic ophthalmoparesis (HP:0008507) help
........expandOculomotor nerve palsy (HP:0012246) help
........expandSetting-sun eye phenomenon (HP:0012470) help

 Sister Nodes: 
..expandAbnormal conjugate eye movement (HP:0000549) help
..expandAbnormal involuntary eye movements (HP:0012547) help
..expandAbnormal ocular alignment (HP:0500073) help
..expandAbnormal saccadic eye movements (HP:0000570) help
..expandAbnormal visual fixation (HP:0025404) help
..expandAbnormality of ocular abduction (HP:0011347) help
..expandAbnormality of ocular smooth pursuit (HP:0000617) help
..expandCompensatory head posture (HP:0031705) help
..expandImpaired ocular adduction (HP:0000542) help
..expandLimited extraocular movements (HP:0007941) help
..expandMarcus Gunn jaw winking synkinesis (HP:0025186) help
..expandOculomotor apraxia (HP:0000657) help
..expandVisual gaze preference (HP:0025518) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000597HP:0000597Ophthalmoparesis0AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0000597Ophthalmoparesis0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0000597Ophthalmoparesis0AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0000597Ophthalmoparesis0AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0000597Ophthalmoparesis0ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0000597Ophthalmoparesis0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0000597Ophthalmoparesis0CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0000597Ophthalmoparesis0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0000597Ophthalmoparesis0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0000597Ophthalmoparesis0CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0000597Ophthalmoparesis0CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0000597Ophthalmoparesis0CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0000597Ophthalmoparesis0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0000597Ophthalmoparesis0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0000597Ophthalmoparesis0COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0000597Ophthalmoparesis0COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0000597Ophthalmoparesis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0000597Ophthalmoparesis0DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0000597Ophthalmoparesis0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0000597Ophthalmoparesis0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0000597Ophthalmoparesis0KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0000597Ophthalmoparesis0KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0000597Ophthalmoparesis0LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0000597Ophthalmoparesis0LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0000597Ophthalmoparesis0MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0000597Ophthalmoparesis0MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0000597Ophthalmoparesis0POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0000597Ophthalmoparesis0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0000597Ophthalmoparesis0RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0000597Ophthalmoparesis0SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0000597Ophthalmoparesis0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0000597Ophthalmoparesis0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0000597Ophthalmoparesis0TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0012246Oculomotor nerve palsy1AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0007715Weak extraocular muscles1AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0008507Static ophthalmoparesis1AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0000602Ophthalmoplegia1AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0012470Setting-sun eye phenomenon1AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0012470Setting-sun eye phenomenon1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0000602Ophthalmoplegia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0012246Oculomotor nerve palsy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007715Weak extraocular muscles1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0008507Static ophthalmoparesis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007715Weak extraocular muscles1AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0008507Static ophthalmoparesis1AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0012470Setting-sun eye phenomenon1AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0000602Ophthalmoplegia1AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0012246Oculomotor nerve palsy1AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0008507Static ophthalmoparesis1AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0012470Setting-sun eye phenomenon1AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0000602Ophthalmoplegia1AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0012246Oculomotor nerve palsy1AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007715Weak extraocular muscles1AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0008507Static ophthalmoparesis1ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0012470Setting-sun eye phenomenon1ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0000602Ophthalmoplegia1ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0012246Oculomotor nerve palsy1ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0007715Weak extraocular muscles1ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0007715Weak extraocular muscles1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0008507Static ophthalmoparesis1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0012470Setting-sun eye phenomenon1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0000602Ophthalmoplegia1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0012246Oculomotor nerve palsy1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0012470Setting-sun eye phenomenon1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0000602Ophthalmoplegia1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0012246Oculomotor nerve palsy1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0007715Weak extraocular muscles1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0008507Static ophthalmoparesis1CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0012246Oculomotor nerve palsy1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007715Weak extraocular muscles1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0008507Static ophthalmoparesis1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0000602Ophthalmoplegia1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0012470Setting-sun eye phenomenon1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007715Weak extraocular muscles1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0008507Static ophthalmoparesis1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0012470Setting-sun eye phenomenon1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0000602Ophthalmoplegia1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0012246Oculomotor nerve palsy1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0012246Oculomotor nerve palsy1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007715Weak extraocular muscles1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0008507Static ophthalmoparesis1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0000602Ophthalmoplegia1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0012470Setting-sun eye phenomenon1CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007715Weak extraocular muscles1CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0008507Static ophthalmoparesis1CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0000602Ophthalmoplegia1CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0012470Setting-sun eye phenomenon1CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0012246Oculomotor nerve palsy1CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0008507Static ophthalmoparesis1CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0000602Ophthalmoplegia1CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0012470Setting-sun eye phenomenon1CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0012246Oculomotor nerve palsy1CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0007715Weak extraocular muscles1CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0000602Ophthalmoplegia1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0012470Setting-sun eye phenomenon1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0012246Oculomotor nerve palsy1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007715Weak extraocular muscles1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0008507Static ophthalmoparesis1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007715Weak extraocular muscles1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0008507Static ophthalmoparesis1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0000602Ophthalmoplegia1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0012470Setting-sun eye phenomenon1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0012246Oculomotor nerve palsy1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0000602Ophthalmoplegia1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0012470Setting-sun eye phenomenon1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0012246Oculomotor nerve palsy1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007715Weak extraocular muscles1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0008507Static ophthalmoparesis1COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007715Weak extraocular muscles1COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0008507Static ophthalmoparesis1COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0012470Setting-sun eye phenomenon1COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0000602Ophthalmoplegia1COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0012246Oculomotor nerve palsy1COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0008507Static ophthalmoparesis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0012470Setting-sun eye phenomenon1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0000602Ophthalmoplegia1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0012246Oculomotor nerve palsy1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0007715Weak extraocular muscles1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0012246Oculomotor nerve palsy1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0007715Weak extraocular muscles1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0008507Static ophthalmoparesis1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0012470Setting-sun eye phenomenon1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0000602Ophthalmoplegia1DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0012246Oculomotor nerve palsy1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0007715Weak extraocular muscles1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0008507Static ophthalmoparesis1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0012470Setting-sun eye phenomenon1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0000602Ophthalmoplegia1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0008507Static ophthalmoparesis1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0000602Ophthalmoplegia1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0012470Setting-sun eye phenomenon1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0012246Oculomotor nerve palsy1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007715Weak extraocular muscles1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0008507Static ophthalmoparesis1KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0012470Setting-sun eye phenomenon1KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0000602Ophthalmoplegia1KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0012246Oculomotor nerve palsy1KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0007715Weak extraocular muscles1KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0012470Setting-sun eye phenomenon1KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0000602Ophthalmoplegia1KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0012246Oculomotor nerve palsy1KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0007715Weak extraocular muscles1KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0008507Static ophthalmoparesis1KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0008507Static ophthalmoparesis1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0012470Setting-sun eye phenomenon1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0000602Ophthalmoplegia1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0012246Oculomotor nerve palsy1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007715Weak extraocular muscles1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007715Weak extraocular muscles1LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0008507Static ophthalmoparesis1LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0012470Setting-sun eye phenomenon1LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0000602Ophthalmoplegia1LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0012246Oculomotor nerve palsy1LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0012246Oculomotor nerve palsy1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007715Weak extraocular muscles1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0008507Static ophthalmoparesis1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0012470Setting-sun eye phenomenon1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0000602Ophthalmoplegia1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0008507Static ophthalmoparesis1MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0012470Setting-sun eye phenomenon1MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0000602Ophthalmoplegia1MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0012246Oculomotor nerve palsy1MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0007715Weak extraocular muscles1MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0007715Weak extraocular muscles1POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0008507Static ophthalmoparesis1POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0000602Ophthalmoplegia1POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0012470Setting-sun eye phenomenon1POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0012246Oculomotor nerve palsy1POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0012470Setting-sun eye phenomenon1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0000602Ophthalmoplegia1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0012246Oculomotor nerve palsy1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0007715Weak extraocular muscles1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0008507Static ophthalmoparesis1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0012470Setting-sun eye phenomenon1RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0000602Ophthalmoplegia1RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0012246Oculomotor nerve palsy1RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0007715Weak extraocular muscles1RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0008507Static ophthalmoparesis1RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0012246Oculomotor nerve palsy1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007715Weak extraocular muscles1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0008507Static ophthalmoparesis1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0012470Setting-sun eye phenomenon1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0000602Ophthalmoplegia1SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007715Weak extraocular muscles1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0008507Static ophthalmoparesis1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0012470Setting-sun eye phenomenon1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0000602Ophthalmoplegia1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0012246Oculomotor nerve palsy1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0012470Setting-sun eye phenomenon1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0000602Ophthalmoplegia1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0012246Oculomotor nerve palsy1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0007715Weak extraocular muscles1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0008507Static ophthalmoparesis1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0008507Static ophthalmoparesis1TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0000602Ophthalmoplegia1TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0012470Setting-sun eye phenomenon1TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0012246Oculomotor nerve palsy1TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0007715Weak extraocular muscles1TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0007942Internal ophthalmoplegia2AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0007824Total ophthalmoplegia2AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0000623Supranuclear ophthalmoplegia2AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0000544External ophthalmoplegia2AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0007650Progressive ophthalmoplegia2AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0030773Internuclear ophthalmoplegia2AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0030773Internuclear ophthalmoplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007942Internal ophthalmoplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007824Total ophthalmoplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0000623Supranuclear ophthalmoplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0000544External ophthalmoplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007650Progressive ophthalmoplegia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0000623Supranuclear ophthalmoplegia2AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0007650Progressive ophthalmoplegia2AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0000544External ophthalmoplegia2AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0030773Internuclear ophthalmoplegia2AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0007824Total ophthalmoplegia2AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0007942Internal ophthalmoplegia2AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0000544External ophthalmoplegia2AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007650Progressive ophthalmoplegia2AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0030773Internuclear ophthalmoplegia2AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007824Total ophthalmoplegia2AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007942Internal ophthalmoplegia2AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0000623Supranuclear ophthalmoplegia2AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007650Progressive ophthalmoplegia2ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0000544External ophthalmoplegia2ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0030773Internuclear ophthalmoplegia2ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0007942Internal ophthalmoplegia2ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0007824Total ophthalmoplegia2ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0000623Supranuclear ophthalmoplegia2ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0007650Progressive ophthalmoplegia2CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0000544External ophthalmoplegia2CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0007942Internal ophthalmoplegia2CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0007824Total ophthalmoplegia2CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0007824Total ophthalmoplegia2CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0007942Internal ophthalmoplegia2CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0000544External ophthalmoplegia2CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0007650Progressive ophthalmoplegia2CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0007942Internal ophthalmoplegia2CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007824Total ophthalmoplegia2CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0000544External ophthalmoplegia2CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007650Progressive ophthalmoplegia2CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0000544External ophthalmoplegia2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0007650Progressive ophthalmoplegia2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0007824Total ophthalmoplegia2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0007942Internal ophthalmoplegia2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0007942Internal ophthalmoplegia2CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007824Total ophthalmoplegia2CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0000544External ophthalmoplegia2CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007650Progressive ophthalmoplegia2CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0000544External ophthalmoplegia2CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0007650Progressive ophthalmoplegia2CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0007942Internal ophthalmoplegia2CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0007824Total ophthalmoplegia2CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0000544External ophthalmoplegia2CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0007650Progressive ophthalmoplegia2CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0007942Internal ophthalmoplegia2CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0007824Total ophthalmoplegia2CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007942Internal ophthalmoplegia2CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007824Total ophthalmoplegia2CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0000544External ophthalmoplegia2CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007650Progressive ophthalmoplegia2CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0000544External ophthalmoplegia2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0007650Progressive ophthalmoplegia2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0030773Internuclear ophthalmoplegia2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0007942Internal ophthalmoplegia2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0007824Total ophthalmoplegia2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0030773Internuclear ophthalmoplegia2COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007942Internal ophthalmoplegia2COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007824Total ophthalmoplegia2COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0000623Supranuclear ophthalmoplegia2COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0000544External ophthalmoplegia2COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007650Progressive ophthalmoplegia2COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0000623Supranuclear ophthalmoplegia2COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0007650Progressive ophthalmoplegia2COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0000544External ophthalmoplegia2COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0030773Internuclear ophthalmoplegia2COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0007824Total ophthalmoplegia2COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0007942Internal ophthalmoplegia2COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0000544External ophthalmoplegia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0007650Progressive ophthalmoplegia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0030773Internuclear ophthalmoplegia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0007824Total ophthalmoplegia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0007942Internal ophthalmoplegia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0000623Supranuclear ophthalmoplegia2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0007942Internal ophthalmoplegia2DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0007824Total ophthalmoplegia2DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0000623Supranuclear ophthalmoplegia2DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0000544External ophthalmoplegia2DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0007650Progressive ophthalmoplegia2DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0030773Internuclear ophthalmoplegia2DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0007942Internal ophthalmoplegia2GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0007824Total ophthalmoplegia2GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0000623Supranuclear ophthalmoplegia2GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0007650Progressive ophthalmoplegia2GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0000544External ophthalmoplegia2GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0030773Internuclear ophthalmoplegia2GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0000544External ophthalmoplegia2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007650Progressive ophthalmoplegia2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0030773Internuclear ophthalmoplegia2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007942Internal ophthalmoplegia2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007824Total ophthalmoplegia2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0000623Supranuclear ophthalmoplegia2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007650Progressive ophthalmoplegia2KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0000544External ophthalmoplegia2KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0030773Internuclear ophthalmoplegia2KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0007942Internal ophthalmoplegia2KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0007824Total ophthalmoplegia2KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0000623Supranuclear ophthalmoplegia2KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0030773Internuclear ophthalmoplegia2KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0007942Internal ophthalmoplegia2KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0007824Total ophthalmoplegia2KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0000623Supranuclear ophthalmoplegia2KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0007650Progressive ophthalmoplegia2KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0000544External ophthalmoplegia2KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0000544External ophthalmoplegia2LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007650Progressive ophthalmoplegia2LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0030773Internuclear ophthalmoplegia2LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007824Total ophthalmoplegia2LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007942Internal ophthalmoplegia2LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0000623Supranuclear ophthalmoplegia2LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0000623Supranuclear ophthalmoplegia2LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0007650Progressive ophthalmoplegia2LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0000544External ophthalmoplegia2LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0030773Internuclear ophthalmoplegia2LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0007942Internal ophthalmoplegia2LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0007824Total ophthalmoplegia2LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0007824Total ophthalmoplegia2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007942Internal ophthalmoplegia2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0000623Supranuclear ophthalmoplegia2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007650Progressive ophthalmoplegia2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0000544External ophthalmoplegia2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0030773Internuclear ophthalmoplegia2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007650Progressive ophthalmoplegia2MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0000544External ophthalmoplegia2MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0030773Internuclear ophthalmoplegia2MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0007942Internal ophthalmoplegia2MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0007824Total ophthalmoplegia2MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0000623Supranuclear ophthalmoplegia2MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0000623Supranuclear ophthalmoplegia2POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0000544External ophthalmoplegia2POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0007650Progressive ophthalmoplegia2POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0030773Internuclear ophthalmoplegia2POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0007942Internal ophthalmoplegia2POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0007824Total ophthalmoplegia2POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0030773Internuclear ophthalmoplegia2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0007942Internal ophthalmoplegia2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0007824Total ophthalmoplegia2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0000623Supranuclear ophthalmoplegia2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0007650Progressive ophthalmoplegia2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0000544External ophthalmoplegia2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0030773Internuclear ophthalmoplegia2RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0007942Internal ophthalmoplegia2RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0007824Total ophthalmoplegia2RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0000623Supranuclear ophthalmoplegia2RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0007650Progressive ophthalmoplegia2RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0000544External ophthalmoplegia2RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0007942Internal ophthalmoplegia2SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007824Total ophthalmoplegia2SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0000623Supranuclear ophthalmoplegia2SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007650Progressive ophthalmoplegia2SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0000544External ophthalmoplegia2SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0030773Internuclear ophthalmoplegia2SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0000623Supranuclear ophthalmoplegia2SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0007650Progressive ophthalmoplegia2SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0000544External ophthalmoplegia2SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0030773Internuclear ophthalmoplegia2SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0007942Internal ophthalmoplegia2SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0007824Total ophthalmoplegia2SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0030773Internuclear ophthalmoplegia2TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0007942Internal ophthalmoplegia2TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0007824Total ophthalmoplegia2TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0000623Supranuclear ophthalmoplegia2TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0007650Progressive ophthalmoplegia2TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0000544External ophthalmoplegia2TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0000544External ophthalmoplegia2TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0007650Progressive ophthalmoplegia2TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0030773Internuclear ophthalmoplegia2TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0007942Internal ophthalmoplegia2TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0007824Total ophthalmoplegia2TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0000623Supranuclear ophthalmoplegia2TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0000590Progressive external ophthalmoplegia3AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0007936Restrictive external ophthalmoplegia3AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0007250Recurrent external ophthalmoplegia3AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0007250Recurrent external ophthalmoplegia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0000590Progressive external ophthalmoplegia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007936Restrictive external ophthalmoplegia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0007936Restrictive external ophthalmoplegia3AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0007250Recurrent external ophthalmoplegia3AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0000590Progressive external ophthalmoplegia3AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0007936Restrictive external ophthalmoplegia3AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007250Recurrent external ophthalmoplegia3AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0000590Progressive external ophthalmoplegia3AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007936Restrictive external ophthalmoplegia3ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0007250Recurrent external ophthalmoplegia3ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0000590Progressive external ophthalmoplegia3ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0007936Restrictive external ophthalmoplegia3CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0007250Recurrent external ophthalmoplegia3CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0000590Progressive external ophthalmoplegia3CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0007250Recurrent external ophthalmoplegia3COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0000590Progressive external ophthalmoplegia3COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007936Restrictive external ophthalmoplegia3COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0007936Restrictive external ophthalmoplegia3COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0007250Recurrent external ophthalmoplegia3COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0000590Progressive external ophthalmoplegia3COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0007936Restrictive external ophthalmoplegia3COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0007250Recurrent external ophthalmoplegia3COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0000590Progressive external ophthalmoplegia3COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0000590Progressive external ophthalmoplegia3DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0007936Restrictive external ophthalmoplegia3DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0007250Recurrent external ophthalmoplegia3DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0000590Progressive external ophthalmoplegia3GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0007936Restrictive external ophthalmoplegia3GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0007250Recurrent external ophthalmoplegia3GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0007936Restrictive external ophthalmoplegia3GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007250Recurrent external ophthalmoplegia3GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0000590Progressive external ophthalmoplegia3GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007936Restrictive external ophthalmoplegia3KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0007250Recurrent external ophthalmoplegia3KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0000590Progressive external ophthalmoplegia3KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0007250Recurrent external ophthalmoplegia3KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0000590Progressive external ophthalmoplegia3KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0007936Restrictive external ophthalmoplegia3KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0007936Restrictive external ophthalmoplegia3LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007250Recurrent external ophthalmoplegia3LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0000590Progressive external ophthalmoplegia3LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0007936Restrictive external ophthalmoplegia3LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0007250Recurrent external ophthalmoplegia3LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0000590Progressive external ophthalmoplegia3LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0000590Progressive external ophthalmoplegia3MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007936Restrictive external ophthalmoplegia3MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007250Recurrent external ophthalmoplegia3MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007936Restrictive external ophthalmoplegia3MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0007250Recurrent external ophthalmoplegia3MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0000590Progressive external ophthalmoplegia3MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0007936Restrictive external ophthalmoplegia3POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0007250Recurrent external ophthalmoplegia3POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0000590Progressive external ophthalmoplegia3POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0007250Recurrent external ophthalmoplegia3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0000590Progressive external ophthalmoplegia3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0007936Restrictive external ophthalmoplegia3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0007250Recurrent external ophthalmoplegia3RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0000590Progressive external ophthalmoplegia3RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0007936Restrictive external ophthalmoplegia3RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0000590Progressive external ophthalmoplegia3SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007936Restrictive external ophthalmoplegia3SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007250Recurrent external ophthalmoplegia3SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0007936Restrictive external ophthalmoplegia3SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0007250Recurrent external ophthalmoplegia3SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0000590Progressive external ophthalmoplegia3SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0007250Recurrent external ophthalmoplegia3TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0000590Progressive external ophthalmoplegia3TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0007936Restrictive external ophthalmoplegia3TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0007936Restrictive external ophthalmoplegia3TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0007250Recurrent external ophthalmoplegia3TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0000590Progressive external ophthalmoplegia3TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0007831Nonprogressive restrictive external ophthalmoplegia3TWNK CL E G H5665270595ORPHA13081160606075
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4AFG3L2 CL E G H10939101109ORPHA1385315604581
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4AGRN CL E G H37579098913ORPHA11782329103320
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4AK9 CL E G H22126498913ORPHA14833814615358
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4ATN1 CL E G H1822101ORPHA11133033607462
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM17711912118490
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHRNA1 CL E G H113498913ORPHA13981955100690
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13981955100690
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13981955100690
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHRNB1 CL E G H114098913ORPHA13571961100710
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHRND CL E G H114498913ORPHA14081965100720
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHRNE CL E G H114598913ORPHA17951966100725
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM17951966100725
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM17951966100725
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4COL13A1 CL E G H130598913ORPHA13972190120350
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4COLQ CL E G H829298915ORPHA14652226603033
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14652226603033
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4DOK7 CL E G H28548998913ORPHA184026594610285
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14534241138292
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14534241138292
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4KRT14 CL E G H386179399ORPHA11676416148066
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4KRT5 CL E G H385279399ORPHA12586442148040
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4LAMB2 CL E G H391398915ORPHA16776487150325
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4LRP4 CL E G H403898913ORPHA17906696604270
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM15146893157140
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4MUSK CL E G H459398913ORPHA14967525601296
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4POLG CL E G H542870595ORPHA119179179174763
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA1349652600716
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4RAPSN CL E G H591398913ORPHA14339863601592
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4SCN4A CL E G H632998913ORPHA1139110591603967
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0000597HP:0007867Restrictive partial external ophthalmoplegia4TWNK CL E G H5665270595ORPHA13081160606075
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000597HP:0000597Ophthalmoparesis0ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0000597Ophthalmoparesis0CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0000597Ophthalmoparesis0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0000597Ophthalmoparesis0GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0000597Ophthalmoparesis0KCNJ18 CL E G H10013444479102ORPHA01139080613236
HP:0000597HP:0000597Ophthalmoparesis0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0000597Ophthalmoparesis0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0000597Ophthalmoparesis0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0000597Ophthalmoparesis0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0000597Ophthalmoparesis0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0000597Ophthalmoparesis0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0000597Ophthalmoparesis0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0000597Ophthalmoparesis0MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0000597Ophthalmoparesis0MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0000597Ophthalmoparesis0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0000597Ophthalmoparesis0MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0000597Ophthalmoparesis0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0000597Ophthalmoparesis0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0000597Ophthalmoparesis0MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0000597Ophthalmoparesis0SCN4A CL E G H6329682ORPHA0139110591603967
HP:0000597HP:0000597Ophthalmoparesis0SCN4A CL E G H632999734ORPHA0139110591603967
HP:0000597HP:0012246Oculomotor nerve palsy1ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0007715Weak extraocular muscles1ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0008507Static ophthalmoparesis1ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0012470Setting-sun eye phenomenon1ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0000602Ophthalmoplegia1ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0000602Ophthalmoplegia1CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0012470Setting-sun eye phenomenon1CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0012246Oculomotor nerve palsy1CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0007715Weak extraocular muscles1CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0008507Static ophthalmoparesis1CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0008507Static ophthalmoparesis1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0012470Setting-sun eye phenomenon1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0000602Ophthalmoplegia1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0012246Oculomotor nerve palsy1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0007715Weak extraocular muscles1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0012246Oculomotor nerve palsy1GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0007715Weak extraocular muscles1GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0008507Static ophthalmoparesis1GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0000602Ophthalmoplegia1GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0012470Setting-sun eye phenomenon1GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0007715Weak extraocular muscles1KCNJ18 CL E G H10013444479102ORPHA01139080613236
HP:0000597HP:0008507Static ophthalmoparesis1KCNJ18 CL E G H10013444479102ORPHA01139080613236
HP:0000597HP:0012470Setting-sun eye phenomenon1KCNJ18 CL E G H10013444479102ORPHA01139080613236
HP:0000597HP:0000602Ophthalmoplegia1KCNJ18 CL E G H10013444479102ORPHA01139080613236
HP:0000597HP:0012246Oculomotor nerve palsy1KCNJ18 CL E G H10013444479102ORPHA01139080613236
HP:0000597HP:0012246Oculomotor nerve palsy1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0007715Weak extraocular muscles1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0008507Static ophthalmoparesis1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0000602Ophthalmoplegia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0007715Weak extraocular muscles1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0008507Static ophthalmoparesis1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0000602Ophthalmoplegia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0012246Oculomotor nerve palsy1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0008507Static ophthalmoparesis1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0000602Ophthalmoplegia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0012246Oculomotor nerve palsy1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0007715Weak extraocular muscles1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0000602Ophthalmoplegia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0012246Oculomotor nerve palsy1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0007715Weak extraocular muscles1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0008507Static ophthalmoparesis1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0012246Oculomotor nerve palsy1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0007715Weak extraocular muscles1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0008507Static ophthalmoparesis1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0000602Ophthalmoplegia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0007715Weak extraocular muscles1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0008507Static ophthalmoparesis1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0000602Ophthalmoplegia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0012246Oculomotor nerve palsy1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0008507Static ophthalmoparesis1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0000602Ophthalmoplegia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0012246Oculomotor nerve palsy1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0007715Weak extraocular muscles1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0000602Ophthalmoplegia1MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0012246Oculomotor nerve palsy1MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0007715Weak extraocular muscles1MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0008507Static ophthalmoparesis1MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0012246Oculomotor nerve palsy1MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0007715Weak extraocular muscles1MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0008507Static ophthalmoparesis1MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0000602Ophthalmoplegia1MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0007715Weak extraocular muscles1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0008507Static ophthalmoparesis1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0000602Ophthalmoplegia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0012246Oculomotor nerve palsy1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0008507Static ophthalmoparesis1MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0000602Ophthalmoplegia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0012246Oculomotor nerve palsy1MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0007715Weak extraocular muscles1MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0000602Ophthalmoplegia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0012246Oculomotor nerve palsy1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0007715Weak extraocular muscles1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0008507Static ophthalmoparesis1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0008507Static ophthalmoparesis1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0012246Oculomotor nerve palsy1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0007715Weak extraocular muscles1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0000602Ophthalmoplegia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0012470Setting-sun eye phenomenon1MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0000602Ophthalmoplegia1MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0012246Oculomotor nerve palsy1MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0007715Weak extraocular muscles1MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0008507Static ophthalmoparesis1MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0012470Setting-sun eye phenomenon1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0000597HP:0012246Oculomotor nerve palsy1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0000597HP:0000602Ophthalmoplegia1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0000597HP:0007715Weak extraocular muscles1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0000597HP:0012246Oculomotor nerve palsy1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0000597HP:0008507Static ophthalmoparesis1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0000597HP:0007715Weak extraocular muscles1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0000597HP:0012470Setting-sun eye phenomenon1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0000597HP:0008507Static ophthalmoparesis1SCN4A CL E G H632999734ORPHA0139110591603967
HP:0000597HP:0000602Ophthalmoplegia1SCN4A CL E G H6329682ORPHA0139110591603967
HP:0000597HP:0007942Internal ophthalmoplegia2ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0007824Total ophthalmoplegia2ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0000623Supranuclear ophthalmoplegia2ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0007650Progressive ophthalmoplegia2ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0000544External ophthalmoplegia2ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0030773Internuclear ophthalmoplegia2ATXN1 CL E G H631098755ORPHA08610548601556
HP:0000597HP:0030773Internuclear ophthalmoplegia2CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0007942Internal ophthalmoplegia2CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0007824Total ophthalmoplegia2CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0000623Supranuclear ophthalmoplegia2CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0000544External ophthalmoplegia2CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0007650Progressive ophthalmoplegia2CACNA1S CL E G H77979102ORPHA015041397114208
HP:0000597HP:0007650Progressive ophthalmoplegia2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0000544External ophthalmoplegia2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0030773Internuclear ophthalmoplegia2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0007942Internal ophthalmoplegia2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0007824Total ophthalmoplegia2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0000623Supranuclear ophthalmoplegia2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM084026594610285
HP:0000597HP:0007942Internal ophthalmoplegia2GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0007824Total ophthalmoplegia2GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0000623Supranuclear ophthalmoplegia2GABRA3 CL E G H255679102ORPHA02124077305660
HP:0000597HP:0000544External ophthalmoplegia2GABRA3 CL E G H