Human Phenotype Ontology 
Grandparent Node:
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Ophthalmoparesis (HP:0000597)help
Parent Node:
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Ophthalmoplegia (HP:0000602)help
..Starting node
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External ophthalmoplegia (HP:0000544)help
Term ID: 544
Name: External ophthalmoplegia
Synonym: Chronic progressive external ophthalmoplegia; CPEO; Ophthalmoplegia externa; Paralysis or weakness of muscles within or surrounding outer part of eye; Progressive paralysis or weakness of muscles of eye motility; Progressive paralysis or weakness of muscles of eye movement
Definition: Paralysis of the external ocular muscles.
Comments:
Reference: HP:0000544
Genes and Diseases:
 
       Child Nodes:
........expandProgressive external ophthalmoplegia (HP:0000590) help
........expandRecurrent external ophthalmoplegia (HP:0007250) help
........expandNonprogressive restrictive external ophthalmoplegia (HP:0007831) help
........expandRestrictive external ophthalmoplegia (HP:0007936) help
................... HP:0007867 Restrictive partial external ophthalmoplegia

 Sister Nodes: 
..expandInternal ophthalmoplegia (HP:0007942) help
..expandInternuclear ophthalmoplegia (HP:0030773) help
..expandProgressive ophthalmoplegia (HP:0007650) help
..expandSupranuclear ophthalmoplegia (HP:0000623) help
..expandTotal ophthalmoplegia (HP:0007824) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000544HP:0000544External ophthalmoplegia0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency ofHP:0040283 - Occasional90
HP:0000544HP:0000544External ophthalmoplegia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0000544HP:0000544External ophthalmoplegia0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000544HP:0000544External ophthalmoplegia0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndrome
HP:0000544HP:0000544External ophthalmoplegia0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0000544HP:0000544External ophthalmoplegia0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0000544HP:0000544External ophthalmoplegia0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0000544HP:0000544External ophthalmoplegia0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0000544HP:0000544External ophthalmoplegia0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional99
HP:0000544HP:0000544External ophthalmoplegia0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33
HP:0000544HP:0000544External ophthalmoplegia0COX1 CL E G H45127419ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0COX2 CL E G H45137421ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0COX3 CL E G H45147422ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0000544HP:0000544External ophthalmoplegia0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 457
HP:0000544HP:0000544External ophthalmoplegia0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0000544HP:0000544External ophthalmoplegia0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0000544HP:0000544External ophthalmoplegia0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional167
HP:0000544HP:0000544External ophthalmoplegia0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0000544HP:0000544External ophthalmoplegia0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessiveHP:0040283 - Occasional76
HP:0000544HP:0000544External ophthalmoplegia0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0000544HP:0000544External ophthalmoplegia0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000544HP:0000544External ophthalmoplegia0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000544HP:0000544External ophthalmoplegia0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000544HP:0000544External ophthalmoplegia0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 193
HP:0000544HP:0000544External ophthalmoplegia0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0000544HP:0000544External ophthalmoplegia0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0000544HP:0000544External ophthalmoplegia0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0000544HP:0000544External ophthalmoplegia0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0000544HP:0000544External ophthalmoplegia0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0000544HP:0000544External ophthalmoplegia0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0000544HP:0000544External ophthalmoplegia0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0000544HP:0000544External ophthalmoplegia0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0000544HP:0000544External ophthalmoplegia0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional7
HP:0000544HP:0000544External ophthalmoplegia0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0000544HP:0000544External ophthalmoplegia0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0000544HP:0000544External ophthalmoplegia0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.HP:0003577 - Congenital onset
HP:0000544HP:0000544External ophthalmoplegia0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional19
HP:0000544HP:0000544External ophthalmoplegia0ND1 CL E G H45357455ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0ND4 CL E G H45387459ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0ND5 CL E G H45407461ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0ND6 CL E G H45417462ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10HP:0040284 - Very rare26
HP:0000544HP:0000544External ophthalmoplegia0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0000544HP:0000544External ophthalmoplegia0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000544HP:0000544External ophthalmoplegia0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000544HP:0000544External ophthalmoplegia0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndrome214
HP:0000544HP:0000544External ophthalmoplegia0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0000544HP:0000544External ophthalmoplegia0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 26
HP:0000544HP:0000544External ophthalmoplegia0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent464
HP:0000544HP:0000544External ophthalmoplegia0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0000544HP:0000544External ophthalmoplegia0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0000544HP:0000544External ophthalmoplegia0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0000544HP:0000544External ophthalmoplegia0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0000544HP:0000544External ophthalmoplegia0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0000544HP:0000544External ophthalmoplegia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0000544HP:0000544External ophthalmoplegia0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0000544HP:0000544External ophthalmoplegia0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent45
HP:0000544HP:0000544External ophthalmoplegia0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 445
HP:0000544HP:0000544External ophthalmoplegia0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000544HP:0000544External ophthalmoplegia0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000544HP:0000544External ophthalmoplegia0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0000544HP:0000544External ophthalmoplegia0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0000544HP:0000544External ophthalmoplegia0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0000544HP:0000544External ophthalmoplegia0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent125
HP:0000544HP:0000544External ophthalmoplegia0RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndrome125
HP:0000544HP:0000544External ophthalmoplegia0RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy).125
HP:0000544HP:0000544External ophthalmoplegia0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0000544HP:0000544External ophthalmoplegia0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5125
HP:0000544HP:0000544External ophthalmoplegia0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional1200
HP:0000544HP:0000544External ophthalmoplegia0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0000544HP:0000544External ophthalmoplegia0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0000544HP:0000544External ophthalmoplegia0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome.86
HP:0000544HP:0000544External ophthalmoplegia0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16.263
HP:0000544HP:0000544External ophthalmoplegia0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare304
HP:0000544HP:0000544External ophthalmoplegia0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare16
HP:0000544HP:0000544External ophthalmoplegia0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare237
HP:0000544HP:0000544External ophthalmoplegia0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare129
HP:0000544HP:0000544External ophthalmoplegia0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2).110
HP:0000544HP:0000544External ophthalmoplegia0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent68
HP:0000544HP:0000544External ophthalmoplegia0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 268
HP:0000544HP:0000544External ophthalmoplegia0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0000544HP:0000544External ophthalmoplegia0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1HP:0040283 - Occasional31
HP:0000544HP:0000544External ophthalmoplegia0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0000544HP:0000544External ophthalmoplegia0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0000544HP:0000544External ophthalmoplegia0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0000544HP:0000544External ophthalmoplegia0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0000544HP:0000544External ophthalmoplegia0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000544HP:0000544External ophthalmoplegia0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0000544HP:0000544External ophthalmoplegia0TRNF CL E G H45587481ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0TRNH CL E G H45647487ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0000544HP:0000544External ophthalmoplegia0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000544HP:0000544External ophthalmoplegia0TRNL1 CL E G H45677490ORPHA:480Kearns-Sayre syndrome
HP:0000544HP:0000544External ophthalmoplegia0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040282 - Frequent
HP:0000544HP:0000544External ophthalmoplegia0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000544HP:0000544External ophthalmoplegia0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000544HP:0000544External ophthalmoplegia0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000544HP:0000544External ophthalmoplegia0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000544HP:0000544External ophthalmoplegia0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathy
HP:0000544HP:0000544External ophthalmoplegia0TRNW CL E G H45787501ORPHA:550MELAS
HP:0000544HP:0000544External ophthalmoplegia0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0000544HP:0000544External ophthalmoplegia0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent113
HP:0000544HP:0000544External ophthalmoplegia0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3113
HP:0000544HP:0000544External ophthalmoplegia0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0000544HP:0000544External ophthalmoplegia0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0000544HP:0000544External ophthalmoplegia0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138
HP:0000544HP:0000544External ophthalmoplegia0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0000544HP:0007250Recurrent external ophthalmoplegia1 CL E G H
HP:0000544HP:0000590Progressive external ophthalmoplegia1ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency ofHP:0040283 - Occasional90
HP:0000544HP:0000590Progressive external ophthalmoplegia1APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0000544HP:0000590Progressive external ophthalmoplegia1ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040281 - Very frequent14
HP:0000544HP:0000590Progressive external ophthalmoplegia1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040281 - Very frequent14
HP:0000544HP:0000590Progressive external ophthalmoplegia1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040281 - Very frequent14
HP:0000544HP:0000590Progressive external ophthalmoplegia1C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0000544HP:0000590Progressive external ophthalmoplegia1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040282 - Frequent57
HP:0000544HP:0000590Progressive external ophthalmoplegia1DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0000544HP:0000590Progressive external ophthalmoplegia1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040281 - Very frequent41
HP:0000544HP:0000590Progressive external ophthalmoplegia1DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0000544HP:0000590Progressive external ophthalmoplegia1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000544HP:0007936Restrictive external ophthalmoplegia1KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0000544HP:0000590Progressive external ophthalmoplegia1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0000544HP:0000590Progressive external ophthalmoplegia1MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040281 - Very frequent11
HP:0000544HP:0000590Progressive external ophthalmoplegia1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040282 - Frequent214
HP:0000544HP:0000590Progressive external ophthalmoplegia1OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0000544HP:0007936Restrictive external ophthalmoplegia1PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 26
HP:0000544HP:0000590Progressive external ophthalmoplegia1POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0000544HP:0000590Progressive external ophthalmoplegia1POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0000544HP:0000590Progressive external ophthalmoplegia1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0000544HP:0000590Progressive external ophthalmoplegia1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0000544HP:0000590Progressive external ophthalmoplegia1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0000544HP:0000590Progressive external ophthalmoplegia1POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0000544HP:0000590Progressive external ophthalmoplegia1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000544HP:0000590Progressive external ophthalmoplegia1RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040280 - Obligate3
HP:0000544HP:0000590Progressive external ophthalmoplegia1RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0000544HP:0000590Progressive external ophthalmoplegia1RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040280 - Obligate125
HP:0000544HP:0000590Progressive external ophthalmoplegia1RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent125
HP:0000544HP:0000590Progressive external ophthalmoplegia1RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5.125
HP:0000544HP:0000590Progressive external ophthalmoplegia1SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 268
HP:0000544HP:0000590Progressive external ophthalmoplegia1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040283 - Occasional103
HP:0000544HP:0000590Progressive external ophthalmoplegia1TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0000544HP:0000590Progressive external ophthalmoplegia1TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040282 - Frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNL1 CL E G H45677490ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040281 - Very frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040281 - Very frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040281 - Very frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040281 - Very frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathyHP:0040282 - Frequent
HP:0000544HP:0000590Progressive external ophthalmoplegia1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0000544HP:0007831Nonprogressive restrictive external ophthalmoplegia1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64
HP:0000544HP:0000590Progressive external ophthalmoplegia1TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3113
HP:0000544HP:0000590Progressive external ophthalmoplegia1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0000544HP:0000590Progressive external ophthalmoplegia1TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0000544HP:0000590Progressive external ophthalmoplegia1VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 20HP:0040283 - Occasional56
HP:0000544HP:0007867Restrictive partial external ophthalmoplegia2 CL E G H


Genes (74) :ACADS APTX ATG7 ATP8 ATXN3 BIN1 C1QBP COX1 COX2 COX3 DGUOK DNA2 DNM2 FA2H FRG1 GIPC1 HPDL KIF21A LIG3 LRP12 LYRM7 MFF MGME1 MTM1 MTMR14 MTRFR MYF5 MYF6 ND1 ND4 ND5 ND6 NDUFAF2 NOTCH2NLC NSUN3 NUTM2B-AS1 OPA1 PHOX2A POLG POLG2 POLRMT RILPL1 RNASEH1 RRM2B RYR1 SALL4 SCN4A SDHA SDHAF1 SDHB SDHD SLC19A3 SLC25A4 SLC52A3 STIM1 STUB1 TK2 TOP3A TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNW TUBB3 TWNK TYMP VARS2

Diseases (72) :OMIM:201470 OMIM:208920 OMIM:619422 ORPHA:480 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:169189 OMIM:617713 ORPHA:550 ORPHA:329314 OMIM:617070 ORPHA:352470 OMIM:615156 OMIM:160150 OMIM:612319 OMIM:158900 ORPHA:98897 OMIM:618940 OMIM:619026 OMIM:135700 ORPHA:298 OMIM:164310 OMIM:615838 OMIM:617086 ORPHA:485421 OMIM:615084 ORPHA:352447 OMIM:310400 OMIM:613559 OMIM:618155 OMIM:618233 OMIM:619012 OMIM:618637 ORPHA:1215 OMIM:165500 OMIM:602078 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:613662 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:619743 OMIM:619790 ORPHA:329336 OMIM:616479 OMIM:612075 OMIM:613077 ORPHA:98905 OMIM:255320 OMIM:147750 OMIM:614198 ORPHA:3208 OMIM:607483 OMIM:609283 OMIM:211530 OMIM:160565 OMIM:615768 ORPHA:254875 OMIM:617069 OMIM:618098 ORPHA:225 ORPHA:1349 ORPHA:663 ORPHA:254857 OMIM:600638 OMIM:609286 OMIM:615917
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.