Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | HP:0040283 - Occasional | | | 90 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | | | | 57 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | | | | 57 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | HP:0040283 - Occasional | | | 76 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | KIF21A CL E G H | 55605 | 19349 | OMIM:135700 | Fibrosis of extraocular muscles, congenital, 1 | | | | 93 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 1 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | . | | | 17 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | | | | 11 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MYF5 CL E G H | 4617 | 7565 | OMIM:618155 | Ophthalmoplegia, external, with rib and vertebral anomalies | . | HP:0003577 - Congenital onset | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | HP:0040284 - Very rare | | | 26 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | NSUN3 CL E G H | 63899 | 26208 | OMIM:619012 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48 | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | NUTM2B-AS1 CL E G H | 101060691 | 51204 | OMIM:618637 | OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1 | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | | | | 214 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | | | | 214 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | PHOX2A CL E G H | 401 | 691 | OMIM:602078 | Fibrosis of extraocular muscles, congenital, 2 | | | | 6 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | 464 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 464 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | 45 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | | | | 45 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 3 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 125 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | 125 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | | | | 125 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | . | | | 125 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | | | | 125 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040282 - Frequent | | | 1200 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | . | | | 86 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | . | | | 263 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 304 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 16 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 237 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 129 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | . | | | 110 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | 68 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | | | | 68 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | HP:0040283 - Occasional | | | 31 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | | | | 14 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 103 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | | | | 103 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | | | | 103 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | | | | 64 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | 113 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 138 | | |
HP:0000544 | HP:0000544 | External ophthalmoplegia | 0 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | | | | 56 | | |
HP:0000544 | HP:0007250 | Recurrent external ophthalmoplegia | 1 | CL E G H | | | | | | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | HP:0040283 - Occasional | | | 90 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040281 - Very frequent | | | 14 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040281 - Very frequent | | | 14 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040281 - Very frequent | | | 14 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | . | | | 57 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040281 - Very frequent | | | | | |
HP:0000544 | HP:0007936 | Restrictive external ophthalmoplegia | 1 | KIF21A CL E G H | 55605 | 19349 | OMIM:135700 | Fibrosis of extraocular muscles, congenital, 1 | . | | | 93 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040281 - Very frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040282 - Frequent | | | 214 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | | | | 214 | | |
HP:0000544 | HP:0007936 | Restrictive external ophthalmoplegia | 1 | PHOX2A CL E G H | 401 | 691 | OMIM:602078 | Fibrosis of extraocular muscles, congenital, 2 | | | | 6 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040280 - Obligate | | | 3 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040280 - Obligate | | | 125 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | . | | | 125 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | | | | 68 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040283 - Occasional | | | 103 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | . | | | 103 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | . | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040282 - Frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | HP:0040282 - Frequent | | | | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000544 | HP:0007831 | Nonprogressive restrictive external ophthalmoplegia | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | . | | | 64 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0000544 | HP:0000590 | Progressive external ophthalmoplegia | 1 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | HP:0040283 - Occasional | | | 56 | | |
HP:0000544 | HP:0007867 | Restrictive partial external ophthalmoplegia | 2 | CL E G H | | | | | | | | | | |