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:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | HP:0040283 - Occasional | | | 46 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040282 - Frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040282 - Frequent | | | 35 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | HP:0040282 - Frequent | | | 11 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | . | | | 57 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | . | | | 1269 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | | | | 89 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | PABPN1 CL E G H | 8106 | 8565 | ORPHA:270 | Oculopharyngeal muscular dystrophy | HP:0040281 - Very frequent | | | 10 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | RNR1 CL E G H | 4549 | 7470 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | SLC25A32 CL E G H | 81034 | 29683 | OMIM:616839 | EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI | | | | 3 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040282 - Frequent | | | 171 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 103 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040281 - Very frequent | | | 101 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNI CL E G H | 4565 | 7488 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040282 - Frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040282 - Frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNP CL E G H | 4571 | 7494 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNP CL E G H | 4571 | 7494 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0003200 | HP:0003200 | Ragged-red muscle fibers | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |