Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
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Abnormal muscle fiber morphology (HP:0004303)help
..Starting node
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Ragged-red muscle fibers (HP:0003200)help
Term ID: 3200
Name: Ragged-red muscle fibers
Synonym: Mitochondrial proliferation in muscle tissue; Ragged red muscle fibers; Ragged red muscle fibres; Ragged-red fibers; Ragged-red fibres; Ragged-red muscle fibres
Definition: An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
Comments:
Reference: HP:0003200
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal muscle fiber protein expression (HP:0030089) help
..expandAbnormal muscle glycogen content (HP:0012269) help
..expandAbnormality of skeletal muscle fiber size (HP:0012084) help
..expandAutophagic vacuoles (HP:0003736) help
..expandCentral core regions in muscle fibers (HP:0030230) help
..expandCentrally nucleated skeletal muscle fibers (HP:0003687) help
..expandDeposits immunoreactive to beta-amyloid protein (HP:0003791) help
..expandHypertrophied muscle fibers (HP:0100293) help
..expandIncreased endomysial connective tissue (HP:0100297) help
..expandIncreased muscle lipid content (HP:0009058) help
..expandInternally nucleated skeletal muscle fibers (HP:0031237) help
..expandMotheaten muscle fibers (HP:0100298) help
..expandMuscle fiber atrophy (HP:0100295) help
..expandMuscle fiber inclusion bodies (HP:0100299) help
..expandMuscle fiber necrosis (HP:0003713) help
..expandMuscle fiber splitting (HP:0003555) help
..expandMyelin-like whorls in vacuolated fibers (HP:0031542) help
..expandNecklace skeletal muscle fibers (HP:0031238) help
..expandPerifascicular muscle fiber atrophy (HP:0100296) help
..expandReduced muscle carnitine level (HP:0030362) help
..expandRimmed vacuoles (HP:0003805) help
..expandRing fibers (HP:0100305) help
..expandType 1 muscle fiber predominance (HP:0003803) help
..expandType 2 muscle fiber predominance (HP:0010602) 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:0003200HP:0003200Ragged-red muscle fibers0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0003200HP:0003200Ragged-red muscle fibers0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0003200HP:0003200Ragged-red muscle fibers0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0003200HP:0003200Ragged-red muscle fibers0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0003200HP:0003200Ragged-red muscle fibers0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent
HP:0003200HP:0003200Ragged-red muscle fibers0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0003200HP:0003200Ragged-red muscle fibers0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0003200HP:0003200Ragged-red muscle fibers0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0003200HP:0003200Ragged-red muscle fibers0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0003200HP:0003200Ragged-red muscle fibers0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0003200HP:0003200Ragged-red muscle fibers0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0003200HP:0003200Ragged-red muscle fibers0COX1 CL E G H45127419ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0COX2 CL E G H45137421ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0COX3 CL E G H45147422ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0003200HP:0003200Ragged-red muscle fibers0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0003200HP:0003200Ragged-red muscle fibers0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0003200HP:0003200Ragged-red muscle fibers0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0003200HP:0003200Ragged-red muscle fibers0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0003200HP:0003200Ragged-red muscle fibers0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0003200HP:0003200Ragged-red muscle fibers0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0003200HP:0003200Ragged-red muscle fibers0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0003200HP:0003200Ragged-red muscle fibers0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0003200HP:0003200Ragged-red muscle fibers0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0003200HP:0003200Ragged-red muscle fibers0ND1 CL E G H45357455ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0ND4 CL E G H45387459ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0ND5 CL E G H45407461ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0ND5 CL E G H45407461ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0ND6 CL E G H45417462ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0003200HP:0003200Ragged-red muscle fibers0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003200HP:0003200Ragged-red muscle fibers0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0003200HP:0003200Ragged-red muscle fibers0PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophyHP:0040281 - Very frequent10
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0003200HP:0003200Ragged-red muscle fibers0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0003200HP:0003200Ragged-red muscle fibers0RNR1 CL E G H45497470ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0003200HP:0003200Ragged-red muscle fibers0RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent125
HP:0003200HP:0003200Ragged-red muscle fibers0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0003200HP:0003200Ragged-red muscle fibers0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0003200HP:0003200Ragged-red muscle fibers0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0003200HP:0003200Ragged-red muscle fibers0SLC25A32 CL E G H8103429683OMIM:616839EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI3
HP:0003200HP:0003200Ragged-red muscle fibers0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0003200HP:0003200Ragged-red muscle fibers0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0003200HP:0003200Ragged-red muscle fibers0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0003200HP:0003200Ragged-red muscle fibers0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0003200HP:0003200Ragged-red muscle fibers0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0003200HP:0003200Ragged-red muscle fibers0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0003200HP:0003200Ragged-red muscle fibers0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0003200HP:0003200Ragged-red muscle fibers0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040281 - Very frequent101
HP:0003200HP:0003200Ragged-red muscle fibers0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNF CL E G H45587481ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNF CL E G H45587481ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNF CL E G H45587481OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNH CL E G H45647487ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNH CL E G H45647487ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNI CL E G H45657488OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNK CL E G H45667489ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040282 - Frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNK CL E G H45667489OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNL1 CL E G H45677490ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNL1 CL E G H45677490ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNL1 CL E G H45677490OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNP CL E G H45717494ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNP CL E G H45717494OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNQ CL E G H45727495ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNQ CL E G H45727495ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNS1 CL E G H45747497ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNS2 CL E G H45757498ORPHA:551MERRFHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TRNW CL E G H45787501ORPHA:550MELASHP:0040281 - Very frequent
HP:0003200HP:0003200Ragged-red muscle fibers0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003200HP:0003200Ragged-red muscle fibers0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003200HP:0003200Ragged-red muscle fibers0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0003200HP:0003200Ragged-red muscle fibers0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003200HP:0003200Ragged-red muscle fibers0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0003200HP:0003200Ragged-red muscle fibers0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0003200HP:0003200Ragged-red muscle fibers0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0003200HP:0003200Ragged-red muscle fibers0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138


Genes (61) :AIFM1 ALG14 ALG2 ATP6 ATP8 BCS1L CARS2 CHCHD10 COQ2 COX1 COX2 COX3 CYTB DGUOK DPAGT1 EARS2 GFPT1 GMPPB LIG3 MGME1 MIEF2 MYH7 ND1 ND2 ND3 ND4 ND5 ND6 NDUFS4 NEFH NUBPL PABPN1 POLG POLG2 RNR1 RRM2B SDHA SLC25A26 SLC25A32 SLC25A4 SPG7 SUCLG1 TK2 TRMU TRNC TRNE TRNF TRNH TRNI TRNK TRNL1 TRNL2 TRNN TRNP TRNQ TRNS1 TRNS2 TRNV TRNW TWNK TYMP

Diseases (46) :OMIM:300816 ORPHA:353327 OMIM:616228 ORPHA:255210 ORPHA:480 OMIM:124000 ORPHA:477774 ORPHA:457050 ORPHA:276435 OMIM:616209 OMIM:607426 ORPHA:550 OMIM:540000 OMIM:617070 OMIM:614924 ORPHA:298 OMIM:615084 ORPHA:352447 OMIM:619024 OMIM:160500 ORPHA:551 OMIM:252010 OMIM:616924 OMIM:618242 ORPHA:270 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:613662 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 OMIM:252011 OMIM:616794 OMIM:616839 OMIM:615418 OMIM:609283 ORPHA:99013 ORPHA:17 OMIM:609560 ORPHA:254864 OMIM:545000 ORPHA:1349 ORPHA:663 OMIM:609286
 

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