Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
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 H10939101109ORPHA140339315604581
HP:0000597HP:0000597Ophthalmoparesis0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140339315604581
HP:0000597HP:0000597Ophthalmoparesis0AGRN CL E G H37579098913ORPHA1181303329103320
HP:0000597HP:0000597Ophthalmoparesis0AK9 CL E G H22126498913ORPHA134433814615358
HP:0000597HP:0000597Ophthalmoparesis0ATN1 CL E G H1822101ORPHA15923033607462
HP:0000597HP:0000597Ophthalmoparesis0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1775001912118490
HP:0000597HP:0000597Ophthalmoparesis0CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0000597HP:0000597Ophthalmoparesis0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis0CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0000597HP:0000597Ophthalmoparesis0CHRND CL E G H114498913ORPHA1263221965100720
HP:0000597HP:0000597Ophthalmoparesis0CHRNE CL E G H114598913ORPHA11385911966100725
HP:0000597HP:0000597Ophthalmoparesis0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis0COL13A1 CL E G H130598913ORPHA131752190120350
HP:0000597HP:0000597Ophthalmoparesis0COLQ CL E G H829298915ORPHA1703572226603033
HP:0000597HP:0000597Ophthalmoparesis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1703572226603033
HP:0000597HP:0000597Ophthalmoparesis0DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0000597HP:0000597Ophthalmoparesis0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis0KRT14 CL E G H386179399ORPHA11181456416148066
HP:0000597HP:0000597Ophthalmoparesis0KRT5 CL E G H385279399ORPHA11552416442148040
HP:0000597HP:0000597Ophthalmoparesis0LAMB2 CL E G H391398915ORPHA11274646487150325
HP:0000597HP:0000597Ophthalmoparesis0LRP4 CL E G H403898913ORPHA1345266696604270
HP:0000597HP:0000597Ophthalmoparesis0MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM11204636893157140
HP:0000597HP:0000597Ophthalmoparesis0MUSK CL E G H459398913ORPHA1223807525601296
HP:0000597HP:0000597Ophthalmoparesis0POLG CL E G H542870595ORPHA130014389179174763
HP:0000597HP:0000597Ophthalmoparesis0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA114319652600716
HP:0000597HP:0000597Ophthalmoparesis0RAPSN CL E G H591398913ORPHA1603189863601592
HP:0000597HP:0000597Ophthalmoparesis0SCN4A CL E G H632998913ORPHA1129105610591603967
HP:0000597HP:0000597Ophthalmoparesis0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12025814025608761
HP:0000597HP:0000597Ophthalmoparesis0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113754311647604592
HP:0000597HP:0000597Ophthalmoparesis0TWNK CL E G H5665270595ORPHA1832151160606075
HP:0000597HP:0000597Ophthalmoparesis1AFG3L2 CL E G H10939101109ORPHA140339315604581
HP:0000597HP:0000597Ophthalmoparesis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140339315604581
HP:0000597HP:0000597Ophthalmoparesis1AGRN CL E G H37579098913ORPHA1181303329103320
HP:0000597HP:0000597Ophthalmoparesis1AK9 CL E G H22126498913ORPHA134433814615358
HP:0000597HP:0000597Ophthalmoparesis1ATN1 CL E G H1822101ORPHA15923033607462
HP:0000597HP:0000597Ophthalmoparesis1CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1775001912118490
HP:0000597HP:0000597Ophthalmoparesis1CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0000597HP:0000597Ophthalmoparesis1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis1CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0000597HP:0000597Ophthalmoparesis1CHRND CL E G H114498913ORPHA1263221965100720
HP:0000597HP:0000597Ophthalmoparesis1CHRNE CL E G H114598913ORPHA11385911966100725
HP:0000597HP:0000597Ophthalmoparesis1CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis1COL13A1 CL E G H130598913ORPHA131752190120350
HP:0000597HP:0000597Ophthalmoparesis1COLQ CL E G H829298915ORPHA1703572226603033
HP:0000597HP:0000597Ophthalmoparesis1COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1703572226603033
HP:0000597HP:0000597Ophthalmoparesis1DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0000597HP:0000597Ophthalmoparesis1GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis1KRT14 CL E G H386179399ORPHA11181456416148066
HP:0000597HP:0000597Ophthalmoparesis1KRT5 CL E G H385279399ORPHA11552416442148040
HP:0000597HP:0000597Ophthalmoparesis1LAMB2 CL E G H391398915ORPHA11274646487150325
HP:0000597HP:0000597Ophthalmoparesis1LRP4 CL E G H403898913ORPHA1345266696604270
HP:0000597HP:0000597Ophthalmoparesis1MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM11204636893157140
HP:0000597HP:0000597Ophthalmoparesis1MUSK CL E G H459398913ORPHA1223807525601296
HP:0000597HP:0000597Ophthalmoparesis1POLG CL E G H542870595ORPHA130014389179174763
HP:0000597HP:0000597Ophthalmoparesis1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA114319652600716
HP:0000597HP:0000597Ophthalmoparesis1RAPSN CL E G H591398913ORPHA1603189863601592
HP:0000597HP:0000597Ophthalmoparesis1SCN4A CL E G H632998913ORPHA1129105610591603967
HP:0000597HP:0000597Ophthalmoparesis1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12025814025608761
HP:0000597HP:0000597Ophthalmoparesis1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113754311647604592
HP:0000597HP:0000597Ophthalmoparesis1TWNK CL E G H5665270595ORPHA1832151160606075
HP:0000597HP:0000597Ophthalmoparesis2AFG3L2 CL E G H10939101109ORPHA140339315604581
HP:0000597HP:0000597Ophthalmoparesis2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140339315604581
HP:0000597HP:0000597Ophthalmoparesis2AGRN CL E G H37579098913ORPHA1181303329103320
HP:0000597HP:0000597Ophthalmoparesis2AK9 CL E G H22126498913ORPHA134433814615358
HP:0000597HP:0000597Ophthalmoparesis2ATN1 CL E G H1822101ORPHA15923033607462
HP:0000597HP:0000597Ophthalmoparesis2CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1775001912118490
HP:0000597HP:0000597Ophthalmoparesis2CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0000597HP:0000597Ophthalmoparesis2CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis2CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0000597HP:0000597Ophthalmoparesis2CHRND CL E G H114498913ORPHA1263221965100720
HP:0000597HP:0000597Ophthalmoparesis2CHRNE CL E G H114598913ORPHA11385911966100725
HP:0000597HP:0000597Ophthalmoparesis2CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis2COL13A1 CL E G H130598913ORPHA131752190120350
HP:0000597HP:0000597Ophthalmoparesis2COLQ CL E G H829298915ORPHA1703572226603033
HP:0000597HP:0000597Ophthalmoparesis2COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1703572226603033
HP:0000597HP:0000597Ophthalmoparesis2DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0000597HP:0000597Ophthalmoparesis2GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis2GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis2KRT14 CL E G H386179399ORPHA11181456416148066
HP:0000597HP:0000597Ophthalmoparesis2KRT5 CL E G H385279399ORPHA11552416442148040
HP:0000597HP:0000597Ophthalmoparesis2LAMB2 CL E G H391398915ORPHA11274646487150325
HP:0000597HP:0000597Ophthalmoparesis2LRP4 CL E G H403898913ORPHA1345266696604270
HP:0000597HP:0000597Ophthalmoparesis2MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM11204636893157140
HP:0000597HP:0000597Ophthalmoparesis2MUSK CL E G H459398913ORPHA1223807525601296
HP:0000597HP:0000597Ophthalmoparesis2POLG CL E G H542870595ORPHA130014389179174763
HP:0000597HP:0000597Ophthalmoparesis2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA114319652600716
HP:0000597HP:0000597Ophthalmoparesis2RAPSN CL E G H591398913ORPHA1603189863601592
HP:0000597HP:0000597Ophthalmoparesis2SCN4A CL E G H632998913ORPHA1129105610591603967
HP:0000597HP:0000597Ophthalmoparesis2SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12025814025608761
HP:0000597HP:0000597Ophthalmoparesis2TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113754311647604592
HP:0000597HP:0000597Ophthalmoparesis2TWNK CL E G H5665270595ORPHA1832151160606075
HP:0000597HP:0000597Ophthalmoparesis3AFG3L2 CL E G H10939101109ORPHA140339315604581
HP:0000597HP:0000597Ophthalmoparesis3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140339315604581
HP:0000597HP:0000597Ophthalmoparesis3AGRN CL E G H37579098913ORPHA1181303329103320
HP:0000597HP:0000597Ophthalmoparesis3AK9 CL E G H22126498913ORPHA134433814615358
HP:0000597HP:0000597Ophthalmoparesis3ATN1 CL E G H1822101ORPHA15923033607462
HP:0000597HP:0000597Ophthalmoparesis3CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1775001912118490
HP:0000597HP:0000597Ophthalmoparesis3CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0000597HP:0000597Ophthalmoparesis3CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis3CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis3CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0000597HP:0000597Ophthalmoparesis3CHRND CL E G H114498913ORPHA1263221965100720
HP:0000597HP:0000597Ophthalmoparesis3CHRNE CL E G H114598913ORPHA11385911966100725
HP:0000597HP:0000597Ophthalmoparesis3CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis3CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis3COL13A1 CL E G H130598913ORPHA131752190120350
HP:0000597HP:0000597Ophthalmoparesis3COLQ CL E G H829298915ORPHA1703572226603033
HP:0000597HP:0000597Ophthalmoparesis3COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1703572226603033
HP:0000597HP:0000597Ophthalmoparesis3DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0000597HP:0000597Ophthalmoparesis3GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis3GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis3KRT14 CL E G H386179399ORPHA11181456416148066
HP:0000597HP:0000597Ophthalmoparesis3KRT5 CL E G H385279399ORPHA11552416442148040
HP:0000597HP:0000597Ophthalmoparesis3LAMB2 CL E G H391398915ORPHA11274646487150325
HP:0000597HP:0000597Ophthalmoparesis3LRP4 CL E G H403898913ORPHA1345266696604270
HP:0000597HP:0000597Ophthalmoparesis3MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM11204636893157140
HP:0000597HP:0000597Ophthalmoparesis3MUSK CL E G H459398913ORPHA1223807525601296
HP:0000597HP:0000597Ophthalmoparesis3POLG CL E G H542870595ORPHA130014389179174763
HP:0000597HP:0000597Ophthalmoparesis3PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA114319652600716
HP:0000597HP:0000597Ophthalmoparesis3RAPSN CL E G H591398913ORPHA1603189863601592
HP:0000597HP:0000597Ophthalmoparesis3SCN4A CL E G H632998913ORPHA1129105610591603967
HP:0000597HP:0000597Ophthalmoparesis3SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12025814025608761
HP:0000597HP:0000597Ophthalmoparesis3TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113754311647604592
HP:0000597HP:0000597Ophthalmoparesis3TWNK CL E G H5665270595ORPHA1832151160606075
HP:0000597HP:0000597Ophthalmoparesis4AFG3L2 CL E G H10939101109ORPHA140339315604581
HP:0000597HP:0000597Ophthalmoparesis4AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM140339315604581
HP:0000597HP:0000597Ophthalmoparesis4AGRN CL E G H37579098913ORPHA1181303329103320
HP:0000597HP:0000597Ophthalmoparesis4AK9 CL E G H22126498913ORPHA134433814615358
HP:0000597HP:0000597Ophthalmoparesis4ATN1 CL E G H1822101ORPHA15923033607462
HP:0000597HP:0000597Ophthalmoparesis4CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1775001912118490
HP:0000597HP:0000597Ophthalmoparesis4CHRNA1 CL E G H113498913ORPHA1363081955100690
HP:0000597HP:0000597Ophthalmoparesis4CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis4CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1363081955100690
HP:0000597HP:0000597Ophthalmoparesis4CHRNB1 CL E G H114098913ORPHA1112771961100710
HP:0000597HP:0000597Ophthalmoparesis4CHRND CL E G H114498913ORPHA1263221965100720
HP:0000597HP:0000597Ophthalmoparesis4CHRNE CL E G H114598913ORPHA11385911966100725
HP:0000597HP:0000597Ophthalmoparesis4CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis4CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11385911966100725
HP:0000597HP:0000597Ophthalmoparesis4COL13A1 CL E G H130598913ORPHA131752190120350
HP:0000597HP:0000597Ophthalmoparesis4COLQ CL E G H829298915ORPHA1703572226603033
HP:0000597HP:0000597Ophthalmoparesis4COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM1703572226603033
HP:0000597HP:0000597Ophthalmoparesis4DOK7 CL E G H28548998913ORPHA17564126594610285
HP:0000597HP:0000597Ophthalmoparesis4GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis4GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1503734241138292
HP:0000597HP:0000597Ophthalmoparesis4KRT14 CL E G H386179399ORPHA11181456416148066
HP:0000597HP:0000597Ophthalmoparesis4KRT5 CL E G H385279399ORPHA11552416442148040
HP:0000597HP:0000597Ophthalmoparesis4LAMB2 CL E G H391398915ORPHA11274646487150325
HP:0000597HP:0000597Ophthalmoparesis4LRP4 CL E G H403898913ORPHA1345266696604270
HP:0000597HP:0000597Ophthalmoparesis4MAPT CL E G H4137260540Parkinson-dementia syndrome260540C1850077OMIM11204636893157140
HP:0000597HP:0000597Ophthalmoparesis4MUSK CL E G H459398913ORPHA1223807525601296
HP:0000597HP:0000597Ophthalmoparesis4POLG CL E G H542870595ORPHA130014389179174763
HP:0000597HP:0000597Ophthalmoparesis4PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA114319652600716
HP:0000597HP:0000597Ophthalmoparesis4RAPSN CL E G H591398913ORPHA1603189863601592
HP:0000597HP:0000597Ophthalmoparesis4SCN4A CL E G H632998913ORPHA1129105610591603967
HP:0000597HP:0000597Ophthalmoparesis4SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM12025814025608761
HP:0000597HP:0000597Ophthalmoparesis4TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113754311647604592
HP:0000597HP:0000597Ophthalmoparesis4TWNK CL E G H5665270595ORPHA1832151160606075
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000597HP:0000597Ophthalmoparesis0ATXN1 CL E G H631098755ORPHA077410548601556
HP:0000597HP:0000597Ophthalmoparesis0CACNA1S CL E G H77979102ORPHA05611361397114208
HP:0000597HP:0000597Ophthalmoparesis0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM07564126594610285
HP:0000597HP:0000597Ophthalmoparesis0GABRA3 CL E G H255679102ORPHA082134077305660
HP:0000597HP:0000597Ophthalmoparesis0KCNJ18 CL E G H10013444479102ORPHA0171639080613236
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 H6329682ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis0SCN4A CL E G H632999734ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis1ATXN1 CL E G H631098755ORPHA077410548601556
HP:0000597HP:0000597Ophthalmoparesis1CACNA1S CL E G H77979102ORPHA05611361397114208
HP:0000597HP:0000597Ophthalmoparesis1DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM07564126594610285
HP:0000597HP:0000597Ophthalmoparesis1GABRA3 CL E G H255679102ORPHA082134077305660
HP:0000597HP:0000597Ophthalmoparesis1KCNJ18 CL E G H10013444479102ORPHA0171639080613236
HP:0000597HP:0000597Ophthalmoparesis1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0000597Ophthalmoparesis1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0000597Ophthalmoparesis1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0000597Ophthalmoparesis1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0000597Ophthalmoparesis1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0000597Ophthalmoparesis1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0000597Ophthalmoparesis1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0000597Ophthalmoparesis1MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0000597Ophthalmoparesis1MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0000597Ophthalmoparesis1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0000597Ophthalmoparesis1MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0000597Ophthalmoparesis1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0000597Ophthalmoparesis1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0000597Ophthalmoparesis1MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0000597Ophthalmoparesis1SCN4A CL E G H632999734ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis1SCN4A CL E G H6329682ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis2ATXN1 CL E G H631098755ORPHA077410548601556
HP:0000597HP:0000597Ophthalmoparesis2CACNA1S CL E G H77979102ORPHA05611361397114208
HP:0000597HP:0000597Ophthalmoparesis2DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM07564126594610285
HP:0000597HP:0000597Ophthalmoparesis2GABRA3 CL E G H255679102ORPHA082134077305660
HP:0000597HP:0000597Ophthalmoparesis2KCNJ18 CL E G H10013444479102ORPHA0171639080613236
HP:0000597HP:0000597Ophthalmoparesis2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0000597Ophthalmoparesis2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0000597Ophthalmoparesis2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0000597Ophthalmoparesis2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0000597Ophthalmoparesis2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0000597Ophthalmoparesis2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0000597Ophthalmoparesis2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0000597Ophthalmoparesis2MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0000597Ophthalmoparesis2MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0000597Ophthalmoparesis2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0000597Ophthalmoparesis2MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0000597Ophthalmoparesis2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0000597Ophthalmoparesis2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0000597Ophthalmoparesis2MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0000597Ophthalmoparesis2SCN4A CL E G H632999734ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis2SCN4A CL E G H6329682ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis3ATXN1 CL E G H631098755ORPHA077410548601556
HP:0000597HP:0000597Ophthalmoparesis3CACNA1S CL E G H77979102ORPHA05611361397114208
HP:0000597HP:0000597Ophthalmoparesis3DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM07564126594610285
HP:0000597HP:0000597Ophthalmoparesis3GABRA3 CL E G H255679102ORPHA082134077305660
HP:0000597HP:0000597Ophthalmoparesis3KCNJ18 CL E G H10013444479102ORPHA0171639080613236
HP:0000597HP:0000597Ophthalmoparesis3MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0000597Ophthalmoparesis3MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0000597Ophthalmoparesis3MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0000597Ophthalmoparesis3MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0000597Ophthalmoparesis3MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0000597Ophthalmoparesis3MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0000597Ophthalmoparesis3MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0000597Ophthalmoparesis3MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0000597Ophthalmoparesis3MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0000597Ophthalmoparesis3MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0000597Ophthalmoparesis3MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0000597Ophthalmoparesis3MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0000597Ophthalmoparesis3MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0000597Ophthalmoparesis3MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0000597Ophthalmoparesis3SCN4A CL E G H632999734ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis3SCN4A CL E G H6329682ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis4ATXN1 CL E G H631098755ORPHA077410548601556
HP:0000597HP:0000597Ophthalmoparesis4CACNA1S CL E G H77979102ORPHA05611361397114208
HP:0000597HP:0000597Ophthalmoparesis4DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM07564126594610285
HP:0000597HP:0000597Ophthalmoparesis4GABRA3 CL E G H255679102ORPHA082134077305660
HP:0000597HP:0000597Ophthalmoparesis4KCNJ18 CL E G H10013444479102ORPHA0171639080613236
HP:0000597HP:0000597Ophthalmoparesis4MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000597HP:0000597Ophthalmoparesis4MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000597HP:0000597Ophthalmoparesis4MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000597HP:0000597Ophthalmoparesis4MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000597HP:0000597Ophthalmoparesis4MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000597HP:0000597Ophthalmoparesis4MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000597HP:0000597Ophthalmoparesis4MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000597HP:0000597Ophthalmoparesis4MT-TF CL E G H4558550ORPHA07481590070
HP:0000597HP:0000597Ophthalmoparesis4MT-TH CL E G H4564550ORPHA07487590040
HP:0000597HP:0000597Ophthalmoparesis4MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000597HP:0000597Ophthalmoparesis4MT-TQ CL E G H4572550ORPHA07495590030
HP:0000597HP:0000597Ophthalmoparesis4MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000597HP:0000597Ophthalmoparesis4MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000597HP:0000597Ophthalmoparesis4MT-TW CL E G H4578550ORPHA07501590095
HP:0000597HP:0000597Ophthalmoparesis4SCN4A CL E G H632999734ORPHA0129105610591603967
HP:0000597HP:0000597Ophthalmoparesis4SCN4A CL E G H6329682ORPHA0129105610591603967


Genes (262) :ABCA4 ACADS ACTA1 ADA2 ADPRHL2 AFG3L2 AGBL5 AGRN AHI1 AHR AIP AK9 ANGPTL6 APTX ARHGEF18 ARL2BP ARL3 ARL6 ATN1 ATP8 ATXN1 ATXN2 ATXN3 ATXN7 BBS2 BCS1L BEST1 BIN1 C12ORF65 C1QBP C8ORF37 CA4 CACNA1S CDH23 CDHR1 CERKL CHAT CHN1 CHRNA1 CHRNB1 CHRND CHRNE CISD2 CLRN1 CNGA1 CNGB1 COL13A1 COL25A1 COL3A1 COLQ COX1 COX10 COX15 COX2 COX3 CRB1 CRX CYTB DGUOK DHDDS DHX38 DNA2 DNM2 DOK7 EARS2 ECHS1 ENG EYS FA2H FAM161A FDXR FOXRED1 FRG1 FSCN2 GABRA3 GBA GFPT1 GUCA1B HACD1 HGSNAT HRAS IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG2 ITGA7 KCND3 KCNJ18 KIAA1549 KIF21A KIZ KLHL40 KLHL41 KLHL7 KRAS KRT14 KRT5 LAMA2 LAMB2 LIPT1 LMOD3 LRAT LRP4 LYRM7 MAFB MAK MAP3K20 MAPT MCM3AP MEN1 MERTK MFF MGME1 MICU1 MTFMT MTM1 MTMR14 MUSK MYF5 MYF6 MYH2 MYH7 MYL2 MYMK MYO9A ND1 ND4 ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEK2 NR2E3 NRAS NRL OFD1 OPA1 PABPN1 PCARE PDE6A PDE6B PDE6G PDHA1 PET100 PHOX2A PIEZO2 PLEC PLXND1 POLG POLG2 POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PTPN22 RAPSN RBP3 RDH12 REEP6 REV3L RGR RHO RLBP1 RNASEH1 ROBO3 ROM1 RP1 RP2 RP9 RPE65 RPGR RRM2B RYR1 SAG SALL4 SBF1 SCAPER SCN4A SDHA SDHAF1 SDHB SDHD SELENON SEMA4A SLC18A3 SLC19A3 SLC25A1 SLC25A4 SLC52A3 SLC5A7 SLC7A14 SLC9A6 SNAP25 SNRNP200 SPATA7 SPEG STIM1 STUB1 SUCLA2 SURF1 SYT2 TACO1 TCIRG1 TGFBR3 TK2 TOP3A TOPORS TPM2 TPM3 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPV4 TSPYL1 TTC8 TTN TUB TUBB3 TULP1 TWNK TYMP UGT1A1 USH2A VAMP1 VARS2 WFS1 ZNF408 ZNF513

Diseases (159) :101109 610246 98913 101 98755 79102 254210 608930 601462 605809 608931 98915 603034 550 254300 610542 79399 260540 70595 397 99734 682 617143 259700 791 171430 2020 171433 255310 615688 618170 98914 2965 231160 183090 94147 256000 169186 255200 320375 613559 91347 233 616313 616322 616324 3463 540000 255241 614924 171629 617717 77261 77260 163200 98772 607855 616165 618124 401768 615673 616325 605637 254940 618198 618226 618225 125250 270 1154 114300 108145 257 570 94125 424107 597 615284 99736 99735 252011 617239 85278 300243 615959 412057 612073 606071 168593 1186 271245 616138 79234 164400 98756 276238 276241 276244 109150 164500 169189 615156 160150 612319 158900 2072 231005 615838 617086 596 310400 618155 618233 254886 254892 298 616479 607313 612075 98905 255320 147750 614198 3208 607483 211530 160565 615768 225 201470 208920 480 617713 329314 617070 352470 135700 352447 615084 165500 602078 157640 258450 603041 613662 607459 610131 329336 613077 609283 254875 617069 618098 1349 663 254857 600638 609286 615917
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.