Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of eye movement (HP:0000496)help
Parent Node:
expand
Ophthalmoparesis (HP:0000597)help
..Starting node
..expand
Ophthalmoplegia (HP:0000602)help
Term ID: 602
Name: Ophthalmoplegia
Synonym: Eye muscle paralysis; Paralysis of extraocular eye movement
Definition: Paralysis of one or more extraocular muscles that are responsible for eye movements.
Comments:
Reference: HP:0000602
Genes and Diseases:
 
       Child Nodes:
........expandExternal ophthalmoplegia (HP:0000544) help
................... HP:0000590 Progressive external ophthalmoplegia
................... HP:0007250 Recurrent external ophthalmoplegia
................... HP:0007831 Nonprogressive restrictive external ophthalmoplegia
................... HP:0007936 Restrictive external ophthalmoplegia
........expandSupranuclear ophthalmoplegia (HP:0000623) help
........expandProgressive ophthalmoplegia (HP:0007650) help
........expandTotal ophthalmoplegia (HP:0007824) help
........expandInternal ophthalmoplegia (HP:0007942) help
........expandInternuclear ophthalmoplegia (HP:0030773) help

 Sister Nodes: 
..expandOculomotor nerve palsy (HP:0012246) help
..expandSetting-sun eye phenomenon (HP:0012470) help
..expandStatic ophthalmoparesis (HP:0008507) help
..expandWeak extraocular muscles (HP:0007715) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000602HP:0000602Ophthalmoplegia0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000602HP:0000602Ophthalmoplegia0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1552161839607575
HP:0000602HP:0000602Ophthalmoplegia0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0000602HP:0000602Ophthalmoplegia0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000602HP:0000602Ophthalmoplegia0AGRN CL E G H37579098914ORPHA118942329103320
HP:0000602HP:0000602Ophthalmoplegia0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000602HP:0000602Ophthalmoplegia0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000602HP:0000602Ophthalmoplegia0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000602HP:0000602Ophthalmoplegia0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000602HP:0000602Ophthalmoplegia0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000602HP:0000602Ophthalmoplegia0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000602HP:0000602Ophthalmoplegia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0000602HP:0000602Ophthalmoplegia0ATXN7 CL E G H631494147ORPHA163110560607640
HP:0000602HP:0000602Ophthalmoplegia0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000602HP:0000602Ophthalmoplegia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0000602HP:0000602Ophthalmoplegia0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000602HP:0000602Ophthalmoplegia0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1173151052601248
HP:0000602HP:0000602Ophthalmoplegia0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0000602HP:0000602Ophthalmoplegia0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000602HP:0000602Ophthalmoplegia0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000602HP:0000602Ophthalmoplegia0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000602HP:0000602Ophthalmoplegia0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000602HP:0000602Ophthalmoplegia0CHAT CL E G H110398914ORPHA1773741912118490
HP:0000602HP:0000602Ophthalmoplegia0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1362361955100690
HP:0000602HP:0000602Ophthalmoplegia0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112051961100710
HP:0000602HP:0000602Ophthalmoplegia0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1262531965100720
HP:0000602HP:0000602Ophthalmoplegia0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11383871966100725
HP:0000602HP:0000602Ophthalmoplegia0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000602HP:0000602Ophthalmoplegia0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000602HP:0000602Ophthalmoplegia0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000602HP:0000602Ophthalmoplegia0COL13A1 CL E G H130598914ORPHA13682190120350
HP:0000602HP:0000602Ophthalmoplegia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0000602HP:0000602Ophthalmoplegia0COX15 CL E G H1355255241ORPHA151882263603646
HP:0000602HP:0000602Ophthalmoplegia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0000602HP:0000602Ophthalmoplegia0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000602HP:0000602Ophthalmoplegia0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000602HP:0000602Ophthalmoplegia0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000602HP:0000602Ophthalmoplegia0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000602HP:0000602Ophthalmoplegia0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0000602HP:0000602Ophthalmoplegia0ECHS1 CL E G H1892255241ORPHA1331843151602292
HP:0000602HP:0000602Ophthalmoplegia0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000602HP:0000602Ophthalmoplegia0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000602HP:0000602Ophthalmoplegia0FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM119453642103270
HP:0000602HP:0000602Ophthalmoplegia0FOXRED1 CL E G H55572255241ORPHA1818326927613622
HP:0000602HP:0000602Ophthalmoplegia0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000602HP:0000602Ophthalmoplegia0GBA CL E G H262977261ORPHA14942064177606463
HP:0000602HP:0000602Ophthalmoplegia0GBA CL E G H262977260ORPHA14942064177606463
HP:0000602HP:0000602Ophthalmoplegia0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000602HP:0000602Ophthalmoplegia0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000602HP:0000602Ophthalmoplegia0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000602HP:0000602Ophthalmoplegia0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000602HP:0000602Ophthalmoplegia0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000602HP:0000602Ophthalmoplegia0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000602HP:0000602Ophthalmoplegia0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000602HP:0000602Ophthalmoplegia0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000602HP:0000602Ophthalmoplegia0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000602HP:0000602Ophthalmoplegia0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000602HP:0000602Ophthalmoplegia0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000602HP:0000602Ophthalmoplegia0LIPT1 CL E G H51601255241ORPHA195429569610284
HP:0000602HP:0000602Ophthalmoplegia0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM1181686649616112
HP:0000602HP:0000602Ophthalmoplegia0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000602HP:0000602Ophthalmoplegia0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000602HP:0000602Ophthalmoplegia0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000602HP:0000602Ophthalmoplegia0MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000602HP:0000602Ophthalmoplegia0MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000602HP:0000602Ophthalmoplegia0MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000602HP:0000602Ophthalmoplegia0MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000602HP:0000602Ophthalmoplegia0MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000602HP:0000602Ophthalmoplegia0MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000602HP:0000602Ophthalmoplegia0MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000602HP:0000602Ophthalmoplegia0MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000602HP:0000602Ophthalmoplegia0MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000602HP:0000602Ophthalmoplegia0MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000602HP:0000602Ophthalmoplegia0MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000602HP:0000602Ophthalmoplegia0MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000602HP:0000602Ophthalmoplegia0MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000602HP:0000602Ophthalmoplegia0MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000602HP:0000602Ophthalmoplegia0MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000602HP:0000602Ophthalmoplegia0MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000602HP:0000602Ophthalmoplegia0MTFMT CL E G H123263255241ORPHA1177629666611766
HP:0000602HP:0000602Ophthalmoplegia0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM1222777525601296
HP:0000602HP:0000602Ophthalmoplegia0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM1244337572160740
HP:0000602HP:0000602Ophthalmoplegia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0000602HP:0000602Ophthalmoplegia0MYO9A CL E G H464998914ORPHA16957608604875
HP:0000602HP:0000602Ophthalmoplegia0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16957608604875
HP:0000602HP:0000602Ophthalmoplegia0NDUFA10 CL E G H4705255241ORPHA163027684603835
HP:0000602HP:0000602Ophthalmoplegia0NDUFA12 CL E G H55967255241ORPHA143123987614530
HP:0000602HP:0000602Ophthalmoplegia0NDUFA13 CL E G H51079255241ORPHA131617194609435
HP:0000602HP:0000602Ophthalmoplegia0NDUFA2 CL E G H4695255241ORPHA14487685602137
HP:0000602HP:0000602Ophthalmoplegia0NDUFA4 CL E G H4697255241ORPHA12557687603833
HP:0000602HP:0000602Ophthalmoplegia0NDUFA9 CL E G H4704255241ORPHA131167693603834
HP:0000602HP:0000602Ophthalmoplegia0NDUFAF2 CL E G H91942255241ORPHA188728086609653
HP:0000602HP:0000602Ophthalmoplegia0NDUFAF5 CL E G H79133255241ORPHA11212115899612360
HP:0000602HP:0000602Ophthalmoplegia0NDUFAF6 CL E G H137682255241ORPHA11011328625612392
HP:0000602HP:0000602Ophthalmoplegia0NDUFS1 CL E G H4719255241ORPHA1281927707157655
HP:0000602HP:0000602Ophthalmoplegia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1281927707157655
HP:0000602HP:0000602Ophthalmoplegia0NDUFS2 CL E G H4720255241ORPHA1241167708602985
HP:0000602HP:0000602Ophthalmoplegia0NDUFS3 CL E G H4722255241ORPHA13587710603846
HP:0000602HP:0000602Ophthalmoplegia0NDUFS4 CL E G H4724255241ORPHA117697711602694
HP:0000602HP:0000602Ophthalmoplegia0NDUFS7 CL E G H374291255241ORPHA18927714601825
HP:0000602HP:0000602Ophthalmoplegia0NDUFS8 CL E G H4728255241ORPHA113667715602141
HP:0000602HP:0000602Ophthalmoplegia0NDUFV1 CL E G H4723255241ORPHA1361447716161015
HP:0000602HP:0000602Ophthalmoplegia0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM1361447716161015
HP:0000602HP:0000602Ophthalmoplegia0NDUFV2 CL E G H4729255241ORPHA181357717600532
HP:0000602HP:0000602Ophthalmoplegia0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000602HP:0000602Ophthalmoplegia0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000602HP:0000602Ophthalmoplegia0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000602HP:0000602Ophthalmoplegia0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000602HP:0000602Ophthalmoplegia0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13944418140605290
HP:0000602HP:0000602Ophthalmoplegia0PABPN1 CL E G H8106270ORPHA123358565602279
HP:0000602HP:0000602Ophthalmoplegia0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000602HP:0000602Ophthalmoplegia0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000602HP:0000602Ophthalmoplegia0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000602HP:0000602Ophthalmoplegia0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000602HP:0000602Ophthalmoplegia0PDHA1 CL E G H5160255241ORPHA11934088806300502
HP:0000602HP:0000602Ophthalmoplegia0PET100 CL E G H100131801255241ORPHA122840038614770
HP:0000602HP:0000602Ophthalmoplegia0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000602HP:0000602Ophthalmoplegia0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13232926270613629
HP:0000602HP:0000602Ophthalmoplegia0PLEC CL E G H5339257ORPHA110427619069601282
HP:0000602HP:0000602Ophthalmoplegia0PLXND1 CL E G H23129570ORPHA181049107604282
HP:0000602HP:0000602Ophthalmoplegia0POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA130011969179174763
HP:0000602HP:0000602Ophthalmoplegia0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000602HP:0000602Ophthalmoplegia0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000602HP:0000602Ophthalmoplegia0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000602HP:0000602Ophthalmoplegia0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000602HP:0000602Ophthalmoplegia0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000602HP:0000602Ophthalmoplegia0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000602HP:0000602Ophthalmoplegia0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000602HP:0000602Ophthalmoplegia0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000602HP:0000602Ophthalmoplegia0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000602HP:0000602Ophthalmoplegia0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000602HP:0000602Ophthalmoplegia0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000602HP:0000602Ophthalmoplegia0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000602HP:0000602Ophthalmoplegia0REV3L CL E G H5980570ORPHA191249968602776
HP:0000602HP:0000602Ophthalmoplegia0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000602HP:0000602Ophthalmoplegia0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000602HP:0000602Ophthalmoplegia0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000602HP:0000602Ophthalmoplegia0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000602HP:0000602Ophthalmoplegia0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000602HP:0000602Ophthalmoplegia0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000602HP:0000602Ophthalmoplegia0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000602HP:0000602Ophthalmoplegia0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000602HP:0000602Ophthalmoplegia0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000602HP:0000602Ophthalmoplegia0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000602HP:0000602Ophthalmoplegia0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000602HP:0000602Ophthalmoplegia0SDHA CL E G H6389255241ORPHA191127910680600857
HP:0000602HP:0000602Ophthalmoplegia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191127910680600857
HP:0000602HP:0000602Ophthalmoplegia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191127910680600857
HP:0000602HP:0000602Ophthalmoplegia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164033867612848
HP:0000602HP:0000602Ophthalmoplegia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117436110683602690
HP:0000602HP:0000602Ophthalmoplegia0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000602HP:0000602Ophthalmoplegia0SLC18A3 CL E G H657298914ORPHA168910936600336
HP:0000602HP:0000602Ophthalmoplegia0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM168910936600336
HP:0000602HP:0000602Ophthalmoplegia0SLC19A3 CL E G H80704255241ORPHA13831816266606152
HP:0000602HP:0000602Ophthalmoplegia0SLC25A1 CL E G H657698914ORPHA12442910979190315
HP:0000602HP:0000602Ophthalmoplegia0SLC5A7 CL E G H6048298914ORPHA12016914025608761
HP:0000602HP:0000602Ophthalmoplegia0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000602HP:0000602Ophthalmoplegia0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000602HP:0000602Ophthalmoplegia0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000602HP:0000602Ophthalmoplegia0SNAP25 CL E G H661698914ORPHA176411132600322
HP:0000602HP:0000602Ophthalmoplegia0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000602HP:0000602Ophthalmoplegia0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000602HP:0000602Ophthalmoplegia0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM11319816901615950
HP:0000602HP:0000602Ophthalmoplegia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12918911448603921
HP:0000602HP:0000602Ophthalmoplegia0SURF1 CL E G H6834255241ORPHA112818911474185620
HP:0000602HP:0000602Ophthalmoplegia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112818911474185620
HP:0000602HP:0000602Ophthalmoplegia0SYT2 CL E G H12783398914ORPHA133911510600104
HP:0000602HP:0000602Ophthalmoplegia0TACO1 CL E G H51204255241ORPHA135724316612958
HP:0000602HP:0000602Ophthalmoplegia0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12222921653609507
HP:0000602HP:0000602Ophthalmoplegia0TSPYL1 CL E G H7259168593ORPHA183212382604714
HP:0000602HP:0000602Ophthalmoplegia0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11612820087608132
HP:0000602HP:0000602Ophthalmoplegia0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139812406601197
HP:0000602HP:0000602Ophthalmoplegia0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17520812423602280
HP:0000602HP:0000602Ophthalmoplegia0TWNK CL E G H566521186ORPHA1831941160606075
HP:0000602HP:0000602Ophthalmoplegia0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM1831941160606075
HP:0000602HP:0000602Ophthalmoplegia0TWNK CL E G H56652616138Perrault syndrome 5616138C4015307OMIM1831941160606075
HP:0000602HP:0000602Ophthalmoplegia0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234235412601608400
HP:0000602HP:0000602Ophthalmoplegia0VAMP1 CL E G H684398914ORPHA166412642185880
HP:0000602HP:0000602Ophthalmoplegia0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11411220041616454
HP:0000602HP:0000602Ophthalmoplegia0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312026498613598
HP:0000602HP:0000602Ophthalmoplegia1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000602HP:0000602Ophthalmoplegia1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1552161839607575
HP:0000602HP:0000602Ophthalmoplegia1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0000602HP:0000602Ophthalmoplegia1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000602HP:0000602Ophthalmoplegia1AGRN CL E G H37579098914ORPHA118942329103320
HP:0000602HP:0000602Ophthalmoplegia1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000602HP:0000602Ophthalmoplegia1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000602HP:0000602Ophthalmoplegia1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000602HP:0000602Ophthalmoplegia1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000602HP:0000602Ophthalmoplegia1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000602HP:0000602Ophthalmoplegia1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000602HP:0000602Ophthalmoplegia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0000602HP:0000602Ophthalmoplegia1ATXN7 CL E G H631494147ORPHA163110560607640
HP:0000602HP:0000602Ophthalmoplegia1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000602HP:0000602Ophthalmoplegia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0000602HP:0000602Ophthalmoplegia1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000602HP:0000602Ophthalmoplegia1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1173151052601248
HP:0000602HP:0000602Ophthalmoplegia1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0000602HP:0000602Ophthalmoplegia1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000602HP:0000602Ophthalmoplegia1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000602HP:0000602Ophthalmoplegia1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000602HP:0000602Ophthalmoplegia1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000602HP:0000602Ophthalmoplegia1CHAT CL E G H110398914ORPHA1773741912118490
HP:0000602HP:0000602Ophthalmoplegia1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1362361955100690
HP:0000602HP:0000602Ophthalmoplegia1CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112051961100710
HP:0000602HP:0000602Ophthalmoplegia1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1262531965100720
HP:0000602HP:0000602Ophthalmoplegia1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11383871966100725
HP:0000602HP:0000602Ophthalmoplegia1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000602HP:0000602Ophthalmoplegia1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000602HP:0000602Ophthalmoplegia1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000602HP:0000602Ophthalmoplegia1COL13A1 CL E G H130598914ORPHA13682190120350
HP:0000602HP:0000602Ophthalmoplegia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0000602HP:0000602Ophthalmoplegia1COX15 CL E G H1355255241ORPHA151882263603646
HP:0000602HP:0000602Ophthalmoplegia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0000602HP:0000602Ophthalmoplegia1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000602HP:0000602Ophthalmoplegia1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000602HP:0000602Ophthalmoplegia1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000602HP:0000602Ophthalmoplegia1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000602HP:0000602Ophthalmoplegia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0000602HP:0000602Ophthalmoplegia1ECHS1 CL E G H1892255241ORPHA1331843151602292
HP:0000602HP:0000602Ophthalmoplegia1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000602HP:0000602Ophthalmoplegia1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000602HP:0000602Ophthalmoplegia1FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM119453642103270
HP:0000602HP:0000602Ophthalmoplegia1FOXRED1 CL E G H55572255241ORPHA1818326927613622
HP:0000602HP:0000602Ophthalmoplegia1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000602HP:0000602Ophthalmoplegia1GBA CL E G H262977260ORPHA14942064177606463
HP:0000602HP:0000602Ophthalmoplegia1GBA CL E G H262977261ORPHA14942064177606463
HP:0000602HP:0000602Ophthalmoplegia1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000602HP:0000602Ophthalmoplegia1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000602HP:0000602Ophthalmoplegia1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000602HP:0000602Ophthalmoplegia1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000602HP:0000602Ophthalmoplegia1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000602HP:0000602Ophthalmoplegia1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000602HP:0000602Ophthalmoplegia1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000602HP:0000602Ophthalmoplegia1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000602HP:0000602Ophthalmoplegia1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000602HP:0000602Ophthalmoplegia1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000602HP:0000602Ophthalmoplegia1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000602HP:0000602Ophthalmoplegia1LIPT1 CL E G H51601255241ORPHA195429569610284
HP:0000602HP:0000602Ophthalmoplegia1LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM1181686649616112
HP:0000602HP:0000602Ophthalmoplegia1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000602HP:0000602Ophthalmoplegia1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000602HP:0000602Ophthalmoplegia1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000602HP:0000602Ophthalmoplegia1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000602HP:0000602Ophthalmoplegia1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000602HP:0000602Ophthalmoplegia1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000602HP:0000602Ophthalmoplegia1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000602HP:0000602Ophthalmoplegia1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000602HP:0000602Ophthalmoplegia1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000602HP:0000602Ophthalmoplegia1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000602HP:0000602Ophthalmoplegia1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000602HP:0000602Ophthalmoplegia1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000602HP:0000602Ophthalmoplegia1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000602HP:0000602Ophthalmoplegia1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000602HP:0000602Ophthalmoplegia1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000602HP:0000602Ophthalmoplegia1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000602HP:0000602Ophthalmoplegia1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000602HP:0000602Ophthalmoplegia1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000602HP:0000602Ophthalmoplegia1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000602HP:0000602Ophthalmoplegia1MTFMT CL E G H123263255241ORPHA1177629666611766
HP:0000602HP:0000602Ophthalmoplegia1MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM1222777525601296
HP:0000602HP:0000602Ophthalmoplegia1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM1244337572160740
HP:0000602HP:0000602Ophthalmoplegia1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0000602HP:0000602Ophthalmoplegia1MYO9A CL E G H464998914ORPHA16957608604875
HP:0000602HP:0000602Ophthalmoplegia1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16957608604875
HP:0000602HP:0000602Ophthalmoplegia1NDUFA10 CL E G H4705255241ORPHA163027684603835
HP:0000602HP:0000602Ophthalmoplegia1NDUFA12 CL E G H55967255241ORPHA143123987614530
HP:0000602HP:0000602Ophthalmoplegia1NDUFA13 CL E G H51079255241ORPHA131617194609435
HP:0000602HP:0000602Ophthalmoplegia1NDUFA2 CL E G H4695255241ORPHA14487685602137
HP:0000602HP:0000602Ophthalmoplegia1NDUFA4 CL E G H4697255241ORPHA12557687603833
HP:0000602HP:0000602Ophthalmoplegia1NDUFA9 CL E G H4704255241ORPHA131167693603834
HP:0000602HP:0000602Ophthalmoplegia1NDUFAF2 CL E G H91942255241ORPHA188728086609653
HP:0000602HP:0000602Ophthalmoplegia1NDUFAF5 CL E G H79133255241ORPHA11212115899612360
HP:0000602HP:0000602Ophthalmoplegia1NDUFAF6 CL E G H137682255241ORPHA11011328625612392
HP:0000602HP:0000602Ophthalmoplegia1NDUFS1 CL E G H4719255241ORPHA1281927707157655
HP:0000602HP:0000602Ophthalmoplegia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1281927707157655
HP:0000602HP:0000602Ophthalmoplegia1NDUFS2 CL E G H4720255241ORPHA1241167708602985
HP:0000602HP:0000602Ophthalmoplegia1NDUFS3 CL E G H4722255241ORPHA13587710603846
HP:0000602HP:0000602Ophthalmoplegia1NDUFS4 CL E G H4724255241ORPHA117697711602694
HP:0000602HP:0000602Ophthalmoplegia1NDUFS7 CL E G H374291255241ORPHA18927714601825
HP:0000602HP:0000602Ophthalmoplegia1NDUFS8 CL E G H4728255241ORPHA113667715602141
HP:0000602HP:0000602Ophthalmoplegia1NDUFV1 CL E G H4723255241ORPHA1361447716161015
HP:0000602HP:0000602Ophthalmoplegia1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM1361447716161015
HP:0000602HP:0000602Ophthalmoplegia1NDUFV2 CL E G H4729255241ORPHA181357717600532
HP:0000602HP:0000602Ophthalmoplegia1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000602HP:0000602Ophthalmoplegia1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000602HP:0000602Ophthalmoplegia1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000602HP:0000602Ophthalmoplegia1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000602HP:0000602Ophthalmoplegia1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13944418140605290
HP:0000602HP:0000602Ophthalmoplegia1PABPN1 CL E G H8106270ORPHA123358565602279
HP:0000602HP:0000602Ophthalmoplegia1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000602HP:0000602Ophthalmoplegia1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000602HP:0000602Ophthalmoplegia1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000602HP:0000602Ophthalmoplegia1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000602HP:0000602Ophthalmoplegia1PDHA1 CL E G H5160255241ORPHA11934088806300502
HP:0000602HP:0000602Ophthalmoplegia1PET100 CL E G H100131801255241ORPHA122840038614770
HP:0000602HP:0000602Ophthalmoplegia1PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000602HP:0000602Ophthalmoplegia1PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13232926270613629
HP:0000602HP:0000602Ophthalmoplegia1PLEC CL E G H5339257ORPHA110427619069601282
HP:0000602HP:0000602Ophthalmoplegia1PLXND1 CL E G H23129570ORPHA181049107604282
HP:0000602HP:0000602Ophthalmoplegia1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA130011969179174763
HP:0000602HP:0000602Ophthalmoplegia1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000602HP:0000602Ophthalmoplegia1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000602HP:0000602Ophthalmoplegia1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000602HP:0000602Ophthalmoplegia1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000602HP:0000602Ophthalmoplegia1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000602HP:0000602Ophthalmoplegia1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000602HP:0000602Ophthalmoplegia1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000602HP:0000602Ophthalmoplegia1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000602HP:0000602Ophthalmoplegia1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000602HP:0000602Ophthalmoplegia1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000602HP:0000602Ophthalmoplegia1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000602HP:0000602Ophthalmoplegia1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000602HP:0000602Ophthalmoplegia1REV3L CL E G H5980570ORPHA191249968602776
HP:0000602HP:0000602Ophthalmoplegia1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000602HP:0000602Ophthalmoplegia1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000602HP:0000602Ophthalmoplegia1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000602HP:0000602Ophthalmoplegia1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000602HP:0000602Ophthalmoplegia1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000602HP:0000602Ophthalmoplegia1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000602HP:0000602Ophthalmoplegia1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000602HP:0000602Ophthalmoplegia1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000602HP:0000602Ophthalmoplegia1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000602HP:0000602Ophthalmoplegia1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000602HP:0000602Ophthalmoplegia1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000602HP:0000602Ophthalmoplegia1SDHA CL E G H6389255241ORPHA191127910680600857
HP:0000602HP:0000602Ophthalmoplegia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191127910680600857
HP:0000602HP:0000602Ophthalmoplegia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191127910680600857
HP:0000602HP:0000602Ophthalmoplegia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164033867612848
HP:0000602HP:0000602Ophthalmoplegia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117436110683602690
HP:0000602HP:0000602Ophthalmoplegia1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000602HP:0000602Ophthalmoplegia1SLC18A3 CL E G H657298914ORPHA168910936600336
HP:0000602HP:0000602Ophthalmoplegia1SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM168910936600336
HP:0000602HP:0000602Ophthalmoplegia1SLC19A3 CL E G H80704255241ORPHA13831816266606152
HP:0000602HP:0000602Ophthalmoplegia1SLC25A1 CL E G H657698914ORPHA12442910979190315
HP:0000602HP:0000602Ophthalmoplegia1SLC5A7 CL E G H6048298914ORPHA12016914025608761
HP:0000602HP:0000602Ophthalmoplegia1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000602HP:0000602Ophthalmoplegia1SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000602HP:0000602Ophthalmoplegia1SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000602HP:0000602Ophthalmoplegia1SNAP25 CL E G H661698914ORPHA176411132600322
HP:0000602HP:0000602Ophthalmoplegia1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000602HP:0000602Ophthalmoplegia1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000602HP:0000602Ophthalmoplegia1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM11319816901615950
HP:0000602HP:0000602Ophthalmoplegia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12918911448603921
HP:0000602HP:0000602Ophthalmoplegia1SURF1 CL E G H6834255241ORPHA112818911474185620
HP:0000602HP:0000602Ophthalmoplegia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112818911474185620
HP:0000602HP:0000602Ophthalmoplegia1SYT2 CL E G H12783398914ORPHA133911510600104
HP:0000602HP:0000602Ophthalmoplegia1TACO1 CL E G H51204255241ORPHA135724316612958
HP:0000602HP:0000602Ophthalmoplegia1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12222921653609507
HP:0000602HP:0000602Ophthalmoplegia1TSPYL1 CL E G H7259168593ORPHA183212382604714
HP:0000602HP:0000602Ophthalmoplegia1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11612820087608132
HP:0000602HP:0000602Ophthalmoplegia1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139812406601197
HP:0000602HP:0000602Ophthalmoplegia1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17520812423602280
HP:0000602HP:0000602Ophthalmoplegia1TWNK CL E G H566521186ORPHA1831941160606075
HP:0000602HP:0000602Ophthalmoplegia1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM1831941160606075
HP:0000602HP:0000602Ophthalmoplegia1TWNK CL E G H56652616138Perrault syndrome 5616138C4015307OMIM1831941160606075
HP:0000602HP:0000602Ophthalmoplegia1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234235412601608400
HP:0000602HP:0000602Ophthalmoplegia1VAMP1 CL E G H684398914ORPHA166412642185880
HP:0000602HP:0000602Ophthalmoplegia1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11411220041616454
HP:0000602HP:0000602Ophthalmoplegia1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312026498613598
HP:0000602HP:0000602Ophthalmoplegia2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000602HP:0000602Ophthalmoplegia2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1552161839607575
HP:0000602HP:0000602Ophthalmoplegia2ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0000602HP:0000602Ophthalmoplegia2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000602HP:0000602Ophthalmoplegia2AGRN CL E G H37579098914ORPHA118942329103320
HP:0000602HP:0000602Ophthalmoplegia2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000602HP:0000602Ophthalmoplegia2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000602HP:0000602Ophthalmoplegia2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000602HP:0000602Ophthalmoplegia2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000602HP:0000602Ophthalmoplegia2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000602HP:0000602Ophthalmoplegia2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000602HP:0000602Ophthalmoplegia2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0000602HP:0000602Ophthalmoplegia2ATXN7 CL E G H631494147ORPHA163110560607640
HP:0000602HP:0000602Ophthalmoplegia2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000602HP:0000602Ophthalmoplegia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0000602HP:0000602Ophthalmoplegia2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000602HP:0000602Ophthalmoplegia2BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1173151052601248
HP:0000602HP:0000602Ophthalmoplegia2C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0000602HP:0000602Ophthalmoplegia2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000602HP:0000602Ophthalmoplegia2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000602HP:0000602Ophthalmoplegia2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000602HP:0000602Ophthalmoplegia2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000602HP:0000602Ophthalmoplegia2CHAT CL E G H110398914ORPHA1773741912118490
HP:0000602HP:0000602Ophthalmoplegia2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1362361955100690
HP:0000602HP:0000602Ophthalmoplegia2CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112051961100710
HP:0000602HP:0000602Ophthalmoplegia2CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1262531965100720
HP:0000602HP:0000602Ophthalmoplegia2CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11383871966100725
HP:0000602HP:0000602Ophthalmoplegia2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000602HP:0000602Ophthalmoplegia2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000602HP:0000602Ophthalmoplegia2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000602HP:0000602Ophthalmoplegia2COL13A1 CL E G H130598914ORPHA13682190120350
HP:0000602HP:0000602Ophthalmoplegia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0000602HP:0000602Ophthalmoplegia2COX15 CL E G H1355255241ORPHA151882263603646
HP:0000602HP:0000602Ophthalmoplegia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0000602HP:0000602Ophthalmoplegia2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000602HP:0000602Ophthalmoplegia2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000602HP:0000602Ophthalmoplegia2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000602HP:0000602Ophthalmoplegia2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000602HP:0000602Ophthalmoplegia2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0000602HP:0000602Ophthalmoplegia2ECHS1 CL E G H1892255241ORPHA1331843151602292
HP:0000602HP:0000602Ophthalmoplegia2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000602HP:0000602Ophthalmoplegia2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000602HP:0000602Ophthalmoplegia2FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM119453642103270
HP:0000602HP:0000602Ophthalmoplegia2FOXRED1 CL E G H55572255241ORPHA1818326927613622
HP:0000602HP:0000602Ophthalmoplegia2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000602HP:0000602Ophthalmoplegia2GBA CL E G H262977260ORPHA14942064177606463
HP:0000602HP:0000602Ophthalmoplegia2GBA CL E G H262977261ORPHA14942064177606463
HP:0000602HP:0000602Ophthalmoplegia2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000602HP:0000602Ophthalmoplegia2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000602HP:0000602Ophthalmoplegia2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000602HP:0000602Ophthalmoplegia2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000602HP:0000602Ophthalmoplegia2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000602HP:0000602Ophthalmoplegia2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000602HP:0000602Ophthalmoplegia2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000602HP:0000602Ophthalmoplegia2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000602HP:0000602Ophthalmoplegia2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000602HP:0000602Ophthalmoplegia2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000602HP:0000602Ophthalmoplegia2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000602HP:0000602Ophthalmoplegia2LIPT1 CL E G H51601255241ORPHA195429569610284
HP:0000602HP:0000602Ophthalmoplegia2LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM1181686649616112
HP:0000602HP:0000602Ophthalmoplegia2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000602HP:0000602Ophthalmoplegia2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000602HP:0000602Ophthalmoplegia2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000602HP:0000602Ophthalmoplegia2MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000602HP:0000602Ophthalmoplegia2MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000602HP:0000602Ophthalmoplegia2MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000602HP:0000602Ophthalmoplegia2MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000602HP:0000602Ophthalmoplegia2MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000602HP:0000602Ophthalmoplegia2MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000602HP:0000602Ophthalmoplegia2MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000602HP:0000602Ophthalmoplegia2MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000602HP:0000602Ophthalmoplegia2MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000602HP:0000602Ophthalmoplegia2MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000602HP:0000602Ophthalmoplegia2MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000602HP:0000602Ophthalmoplegia2MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000602HP:0000602Ophthalmoplegia2MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000602HP:0000602Ophthalmoplegia2MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000602HP:0000602Ophthalmoplegia2MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000602HP:0000602Ophthalmoplegia2MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000602HP:0000602Ophthalmoplegia2MTFMT CL E G H123263255241ORPHA1177629666611766
HP:0000602HP:0000602Ophthalmoplegia2MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM1222777525601296
HP:0000602HP:0000602Ophthalmoplegia2MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM1244337572160740
HP:0000602HP:0000602Ophthalmoplegia2MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0000602HP:0000602Ophthalmoplegia2MYO9A CL E G H464998914ORPHA16957608604875
HP:0000602HP:0000602Ophthalmoplegia2MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16957608604875
HP:0000602HP:0000602Ophthalmoplegia2NDUFA10 CL E G H4705255241ORPHA163027684603835
HP:0000602HP:0000602Ophthalmoplegia2NDUFA12 CL E G H55967255241ORPHA143123987614530
HP:0000602HP:0000602Ophthalmoplegia2NDUFA13 CL E G H51079255241ORPHA131617194609435
HP:0000602HP:0000602Ophthalmoplegia2NDUFA2 CL E G H4695255241ORPHA14487685602137
HP:0000602HP:0000602Ophthalmoplegia2NDUFA4 CL E G H4697255241ORPHA12557687603833
HP:0000602HP:0000602Ophthalmoplegia2NDUFA9 CL E G H4704255241ORPHA131167693603834
HP:0000602HP:0000602Ophthalmoplegia2NDUFAF2 CL E G H91942255241ORPHA188728086609653
HP:0000602HP:0000602Ophthalmoplegia2NDUFAF5 CL E G H79133255241ORPHA11212115899612360
HP:0000602HP:0000602Ophthalmoplegia2NDUFAF6 CL E G H137682255241ORPHA11011328625612392
HP:0000602HP:0000602Ophthalmoplegia2NDUFS1 CL E G H4719255241ORPHA1281927707157655
HP:0000602HP:0000602Ophthalmoplegia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1281927707157655
HP:0000602HP:0000602Ophthalmoplegia2NDUFS2 CL E G H4720255241ORPHA1241167708602985
HP:0000602HP:0000602Ophthalmoplegia2NDUFS3 CL E G H4722255241ORPHA13587710603846
HP:0000602HP:0000602Ophthalmoplegia2NDUFS4 CL E G H4724255241ORPHA117697711602694
HP:0000602HP:0000602Ophthalmoplegia2NDUFS7 CL E G H374291255241ORPHA18927714601825
HP:0000602HP:0000602Ophthalmoplegia2NDUFS8 CL E G H4728255241ORPHA113667715602141
HP:0000602HP:0000602Ophthalmoplegia2NDUFV1 CL E G H4723255241ORPHA1361447716161015
HP:0000602HP:0000602Ophthalmoplegia2NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM1361447716161015
HP:0000602HP:0000602Ophthalmoplegia2NDUFV2 CL E G H4729255241ORPHA181357717600532
HP:0000602HP:0000602Ophthalmoplegia2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000602HP:0000602Ophthalmoplegia2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000602HP:0000602Ophthalmoplegia2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000602HP:0000602Ophthalmoplegia2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000602HP:0000602Ophthalmoplegia2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13944418140605290
HP:0000602HP:0000602Ophthalmoplegia2PABPN1 CL E G H8106270ORPHA123358565602279
HP:0000602HP:0000602Ophthalmoplegia2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000602HP:0000602Ophthalmoplegia2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000602HP:0000602Ophthalmoplegia2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000602HP:0000602Ophthalmoplegia2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000602HP:0000602Ophthalmoplegia2PDHA1 CL E G H5160255241ORPHA11934088806300502
HP:0000602HP:0000602Ophthalmoplegia2PET100 CL E G H100131801255241ORPHA122840038614770
HP:0000602HP:0000602Ophthalmoplegia2PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000602HP:0000602Ophthalmoplegia2PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13232926270613629
HP:0000602HP:0000602Ophthalmoplegia2PLEC CL E G H5339257ORPHA110427619069601282
HP:0000602HP:0000602Ophthalmoplegia2PLXND1 CL E G H23129570ORPHA181049107604282
HP:0000602HP:0000602Ophthalmoplegia2POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA130011969179174763
HP:0000602HP:0000602Ophthalmoplegia2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000602HP:0000602Ophthalmoplegia2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000602HP:0000602Ophthalmoplegia2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000602HP:0000602Ophthalmoplegia2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000602HP:0000602Ophthalmoplegia2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000602HP:0000602Ophthalmoplegia2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000602HP:0000602Ophthalmoplegia2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000602HP:0000602Ophthalmoplegia2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000602HP:0000602Ophthalmoplegia2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000602HP:0000602Ophthalmoplegia2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000602HP:0000602Ophthalmoplegia2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000602HP:0000602Ophthalmoplegia2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000602HP:0000602Ophthalmoplegia2REV3L CL E G H5980570ORPHA191249968602776
HP:0000602HP:0000602Ophthalmoplegia2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000602HP:0000602Ophthalmoplegia2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000602HP:0000602Ophthalmoplegia2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000602HP:0000602Ophthalmoplegia2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000602HP:0000602Ophthalmoplegia2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000602HP:0000602Ophthalmoplegia2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000602HP:0000602Ophthalmoplegia2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000602HP:0000602Ophthalmoplegia2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000602HP:0000602Ophthalmoplegia2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000602HP:0000602Ophthalmoplegia2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000602HP:0000602Ophthalmoplegia2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000602HP:0000602Ophthalmoplegia2SDHA CL E G H6389255241ORPHA191127910680600857
HP:0000602HP:0000602Ophthalmoplegia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191127910680600857
HP:0000602HP:0000602Ophthalmoplegia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191127910680600857
HP:0000602HP:0000602Ophthalmoplegia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164033867612848
HP:0000602HP:0000602Ophthalmoplegia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117436110683602690
HP:0000602HP:0000602Ophthalmoplegia2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000602HP:0000602Ophthalmoplegia2SLC18A3 CL E G H657298914ORPHA168910936600336
HP:0000602HP:0000602Ophthalmoplegia2SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM168910936600336
HP:0000602HP:0000602Ophthalmoplegia2SLC19A3 CL E G H80704255241ORPHA13831816266606152
HP:0000602HP:0000602Ophthalmoplegia2SLC25A1 CL E G H657698914ORPHA12442910979190315
HP:0000602HP:0000602Ophthalmoplegia2SLC5A7 CL E G H6048298914ORPHA12016914025608761
HP:0000602HP:0000602Ophthalmoplegia2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000602HP:0000602Ophthalmoplegia2SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000602HP:0000602Ophthalmoplegia2SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000602HP:0000602Ophthalmoplegia2SNAP25 CL E G H661698914ORPHA176411132600322
HP:0000602HP:0000602Ophthalmoplegia2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000602HP:0000602Ophthalmoplegia2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000602HP:0000602Ophthalmoplegia2SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM11319816901615950
HP:0000602HP:0000602Ophthalmoplegia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM12918911448603921
HP:0000602HP:0000602Ophthalmoplegia2SURF1 CL E G H6834255241ORPHA112818911474185620
HP:0000602HP:0000602Ophthalmoplegia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112818911474185620
HP:0000602HP:0000602Ophthalmoplegia2SYT2 CL E G H12783398914ORPHA133911510600104
HP:0000602HP:0000602Ophthalmoplegia2TACO1 CL E G H51204255241ORPHA135724316612958
HP:0000602HP:0000602Ophthalmoplegia2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12222921653609507
HP:0000602HP:0000602Ophthalmoplegia2TSPYL1 CL E G H7259168593ORPHA183212382604714
HP:0000602HP:0000602Ophthalmoplegia2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11612820087608132
HP:0000602HP:0000602Ophthalmoplegia2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139812406601197
HP:0000602HP:0000602Ophthalmoplegia2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17520812423602280
HP:0000602HP:0000602Ophthalmoplegia2TWNK CL E G H566521186ORPHA1831941160606075
HP:0000602HP:0000602Ophthalmoplegia2TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM1831941160606075
HP:0000602HP:0000602Ophthalmoplegia2TWNK CL E G H56652616138Perrault syndrome 5616138C4015307OMIM1831941160606075
HP:0000602HP:0000602Ophthalmoplegia2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11234235412601608400
HP:0000602HP:0000602Ophthalmoplegia2VAMP1 CL E G H684398914ORPHA166412642185880
HP:0000602HP:0000602Ophthalmoplegia2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11411220041616454
HP:0000602HP:0000602Ophthalmoplegia2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1312026498613598
HP:0000602HP:0000602Ophthalmoplegia3ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000602HP:0000602Ophthalmoplegia3ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1552161839607575
HP:0000602HP:0000602Ophthalmoplegia3ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0000602HP:0000602Ophthalmoplegia3AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000602HP:0000602Ophthalmoplegia3AGRN CL E G H37579098914ORPHA118942329103320
HP:0000602HP:0000602Ophthalmoplegia3AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000602HP:0000602Ophthalmoplegia3AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000602HP:0000602Ophthalmoplegia3ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000602HP:0000602Ophthalmoplegia3ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000602HP:0000602Ophthalmoplegia3ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000602HP:0000602Ophthalmoplegia3ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000602HP:0000602Ophthalmoplegia3ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM1444910555601517
HP:0000602HP:0000602Ophthalmoplegia3ATXN7 CL E G H631494147ORPHA163110560607640
HP:0000602HP:0000602Ophthalmoplegia3BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000602HP:0000602Ophthalmoplegia3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0000602HP:0000602Ophthalmoplegia3BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000602HP:0000602Ophthalmoplegia3BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1173151052601248
HP:0000602HP:0000602Ophthalmoplegia3C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0000602HP:0000602Ophthalmoplegia3C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000602HP:0000602Ophthalmoplegia3CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000602HP:0000602Ophthalmoplegia3CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000602HP:0000602Ophthalmoplegia3CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000602HP:0000602Ophthalmoplegia3CHAT CL E G H110398914ORPHA1773741912118490
HP:0000602HP:0000602Ophthalmoplegia3CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1362361955100690
HP:0000602HP:0000602Ophthalmoplegia3CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM1112051961100710
HP:0000602HP:0000602Ophthalmoplegia3CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1262531965100720
HP:0000602HP:0000602Ophthalmoplegia3CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11383871966100725
HP:0000602HP:0000602Ophthalmoplegia3CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000602HP:0000602Ophthalmoplegia3CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000602HP:0000602Ophthalmoplegia3CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000602HP:0000602Ophthalmoplegia3COL13A1 CL E G H130598914ORPHA13682190120350
HP:0000602HP:0000602Ophthalmoplegia3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0000602HP:0000602Ophthalmoplegia3COX15 CL E G H1355255241ORPHA151882263603646
HP:0000602HP:0000602Ophthalmoplegia3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0000602HP:0000602Ophthalmoplegia3CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000602HP:0000602Ophthalmoplegia3CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000602HP:0000602Ophthalmoplegia3DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000602HP:0000602Ophthalmoplegia3DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000602HP:0000602Ophthalmoplegia3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0000602HP:0000602Ophthalmoplegia3ECHS1 CL E G H1892255241ORPHA1331843151602292
HP:0000602HP:0000602Ophthalmoplegia3EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000602HP:0000602Ophthalmoplegia3FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000602HP:0000602Ophthalmoplegia3FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM119453642103270
HP:0000602HP:0000602Ophthalmoplegia3FOXRED1 CL E G H55572255241ORPHA1818326927613622
HP:0000602HP:0000602Ophthalmoplegia3FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000602HP:0000602Ophthalmoplegia3GBA CL E G H262977260ORPHA14942064177606463
HP:0000602HP:0000602Ophthalmoplegia3GBA CL E G H262977261ORPHA14942064177606463
HP:0000602HP:0000602Ophthalmoplegia3GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000602HP:0000602Ophthalmoplegia3HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000602HP:0000602Ophthalmoplegia3IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000602HP:0000602Ophthalmoplegia3IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000602HP:0000602Ophthalmoplegia3IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000602HP:0000602Ophthalmoplegia3IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000602HP:0000602Ophthalmoplegia3IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000602HP:0000602Ophthalmoplegia3IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000602HP:0000602Ophthalmoplegia3KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000602HP:0000602Ophthalmoplegia3KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000602HP:0000602Ophthalmoplegia3KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000602HP:0000602Ophthalmoplegia3LIPT1 CL E G H51601255241ORPHA195429569610284
HP:0000602HP:0000602Ophthalmoplegia3LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM1181686649616112
HP:0000602HP:0000602Ophthalmoplegia3LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000602HP:0000602Ophthalmoplegia3MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000602HP:0000602Ophthalmoplegia3MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000602HP:0000602Ophthalmoplegia3MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000602HP:0000602Ophthalmoplegia3MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000602HP:0000602Ophthalmoplegia3MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000602HP:0000602Ophthalmoplegia3MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000602HP:0000602Ophthalmoplegia3MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000602HP:0000602Ophthalmoplegia3MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000602HP:0000602Ophthalmoplegia3MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000602HP:0000602Ophthalmoplegia3MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000602HP:0000602Ophthalmoplegia3MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000602HP:0000602Ophthalmoplegia3MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000602HP:0000602Ophthalmoplegia3MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000602HP:0000602Ophthalmoplegia3MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000602HP:0000602Ophthalmoplegia3MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000602HP:0000602Ophthalmoplegia3MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000602HP:0000602Ophthalmoplegia3MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000602HP:0000602Ophthalmoplegia3MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000602HP:0000602Ophthalmoplegia3MTFMT CL E G H123263255241ORPHA1177629666611766
HP:0000602HP:0000602Ophthalmoplegia3MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM1222777525601296
HP:0000602HP:0000602Ophthalmoplegia3MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM1244337572160740
HP:0000602HP:0000602Ophthalmoplegia3MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0000602HP:0000602Ophthalmoplegia3MYO9A CL E G H464998914ORPHA16957608604875
HP:0000602HP:0000602Ophthalmoplegia3MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16957608604875
HP:0000602HP:0000602Ophthalmoplegia3NDUFA10 CL E G H4705255241ORPHA163027684603835
HP:0000602HP:0000602Ophthalmoplegia3NDUFA12 CL E G H55967255241ORPHA143123987614530
HP:0000602HP:0000602Ophthalmoplegia3NDUFA13 CL E G H51079255241ORPHA131617194609435
HP:0000602HP:0000602Ophthalmoplegia3NDUFA2 CL E G H4695255241ORPHA14487685602137
HP:0000602HP:0000602Ophthalmoplegia3NDUFA4 CL E G H4697255241ORPHA12557687603833
HP:0000602HP:0000602Ophthalmoplegia3NDUFA9 CL E G H4704255241ORPHA131167693603834
HP:0000602HP:0000602Ophthalmoplegia3NDUFAF2 CL E G H91942255241ORPHA188728086609653
HP:0000602HP:0000602Ophthalmoplegia3NDUFAF5 CL E G H79133255241ORPHA11212115899612360
HP:0000602HP:0000602Ophthalmoplegia3NDUFAF6 CL E G H137682255241ORPHA11011328625612392
HP:0000602HP:0000602Ophthalmoplegia3NDUFS1 CL E G H4719255241ORPHA1281927707157655
HP:0000602HP:0000602Ophthalmoplegia3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1281927707157655
HP:0000602HP:0000602Ophthalmoplegia3NDUFS2 CL E G H4720255241ORPHA1241167708602985
HP:0000602HP:0000602Ophthalmoplegia3NDUFS3 CL E G H4722255241ORPHA13587710603846
HP:0000602HP:0000602Ophthalmoplegia3NDUFS4 CL E G H4724255241ORPHA117697711602694
HP:0000602HP:0000602Ophthalmoplegia3NDUFS7 CL E G H374291255241ORPHA18927714601825
HP:0000602HP:0000602Ophthalmoplegia3NDUFS8 CL E G H4728255241ORPHA113667715602141
HP:0000602HP:0000602Ophthalmoplegia3NDUFV1 CL E G H4723255241ORPHA1361447716161015
HP:0000602HP:0000602Ophthalmoplegia3NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM1361447716161015
HP:0000602HP:0000602Ophthalmoplegia3NDUFV2 CL E G H4729255241ORPHA181357717600532
HP:0000602HP:0000602Ophthalmoplegia3NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000602HP:0000602Ophthalmoplegia3NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000602HP:0000602Ophthalmoplegia3NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000602HP:0000602Ophthalmoplegia3OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000602HP:0000602Ophthalmoplegia3OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13944418140605290
HP:0000602HP:0000602Ophthalmoplegia3PABPN1 CL E G H8106270ORPHA123358565602279
HP:0000602HP:0000602Ophthalmoplegia3PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000602HP:0000602Ophthalmoplegia3PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000602HP:0000602Ophthalmoplegia3PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000602HP:0000602Ophthalmoplegia3PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000602HP:0000602Ophthalmoplegia3PDHA1 CL E G H5160255241ORPHA11934088806300502
HP:0000602HP:0000602Ophthalmoplegia3PET100 CL E G H100131801255241ORPHA122840038614770
HP:0000602HP:0000602Ophthalmoplegia3PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000602HP:0000602Ophthalmoplegia3PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM13232926270613629
HP:0000602HP:0000602Ophthalmoplegia3PLEC CL E G H5339257ORPHA110427619069601282
HP:0000602HP:0000602Ophthalmoplegia3PLXND1 CL E G H23129570ORPHA181049107604282
HP:0000602HP:0000602Ophthalmoplegia3POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA130011969179174763
HP:0000602HP:0000602Ophthalmoplegia3POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000602HP:0000602Ophthalmoplegia3PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000602HP:0000602Ophthalmoplegia3PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000602HP:0000602Ophthalmoplegia3PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000602HP:0000602Ophthalmoplegia3PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000602HP:0000602Ophthalmoplegia3PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000602HP:0000602Ophthalmoplegia3PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000602HP:0000602Ophthalmoplegia3PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000602HP:0000602Ophthalmoplegia3PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000602HP:0000602Ophthalmoplegia3RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000602HP:0000602Ophthalmoplegia3RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000602HP:0000602Ophthalmoplegia3REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000602HP:0000602Ophthalmoplegia3REV3L CL E G H5980570ORPHA191249968602776
HP:0000602HP:0000602Ophthalmoplegia3RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000602HP:0000602Ophthalmoplegia3RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000602HP:0000602Ophthalmoplegia3RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000602HP:0000602Ophthalmoplegia3ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000602HP:0000602Ophthalmoplegia3RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000602HP:0000602Ophthalmoplegia3RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000602HP:0000602Ophthalmoplegia3RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000602HP:0000602Ophthalmoplegia3RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000602HP:0000602Ophthalmoplegia3RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000602HP:0000602Ophthalmoplegia3SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000602HP:0000602Ophthalmoplegia3SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000602HP:0000602Ophthalmoplegia3SDHA CL E G H6389255241ORPHA191127910680600857
HP:0000602HP:0000602Ophthalmoplegia3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191127910680600857
HP:0000602HP:0000602Ophthalmoplegia3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191127910680600857
HP:0000602HP:0000602Ophthalmoplegia3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164033867612848
HP:0000602HP:0000602Ophthalmoplegia3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117436110683602690
HP:0000602HP:0000602Ophthalmoplegia3SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000602HP:0000602Ophthalmoplegia3SLC18A3 CL E G H657298914ORPHA168910936600336
HP:0000602HP:0000602Ophthalmoplegia3SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM168910936600336
HP:0000602HP:0000602Ophthalmoplegia3SLC19A3 CL E G H80704255241ORPHA13831816266606152
HP:0000602HP:0000602Ophthalmoplegia3SLC25A1 CL E G H657698914ORPHA12442910979190315
HP:0000602HP:0000602Ophthalmoplegia3SLC5A7 CL E G H6048298914ORPHA12016914025608761
HP:0000602HP:0000602Ophthalmoplegia3SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000602HP:0000602Ophthalmoplegia3SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000602HP:0000602Ophthalmoplegia3SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000602HP:0000602Ophthalmoplegia3SNAP25 CL E G H661698914ORPHA176411132600322
HP:0000602HP:0000602Ophthalmoplegia3SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000602HP:0000602Ophthalmoplegia3SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000602HP:0000602Ophthalmoplegia3SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM113198