Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Muscle weakness (HP:0001324)help
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Weakness of muscles of respiration (HP:0004347)help
Term ID: 4347
Name: Weakness of muscles of respiration
Synonym:
Definition: Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.
Comments:
Reference: HP:0004347
Genes and Diseases:
 
       Child Nodes:
........expandRespiratory paralysis (HP:0002203) help
........expandRespiratory insufficiency due to muscle weakness (HP:0002747) help
................... HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness
........expandReduced maximal inspiratory pressure (HP:0012496) help
........expandReduced maximal expiratory pressure (HP:0012497) help

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandAxial muscle weakness (HP:0003327) help
..expandBulbar palsy (HP:0001283) help
..expandCold paresis (HP:0031372) help
..expandDiaphragmatic weakness (HP:0009113) help
..expandDistal muscle weakness (HP:0002460) help
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb muscle weakness (HP:0003690) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandMuscle flaccidity (HP:0010547) help
..expandNeck muscle weakness (HP:0000467) help
..expandPoor head control (HP:0002421) help
..expandProgressive muscle weakness (HP:0003323) help
..expandProximal muscle weakness (HP:0003701) help
..expandScapuloperoneal weakness (HP:0003704) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) 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:0004347HP:0004347Weakness of muscles of respiration0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0004347HP:0004347Weakness of muscles of respiration0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0004347HP:0004347Weakness of muscles of respiration0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0004347HP:0004347Weakness of muscles of respiration0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0004347HP:0004347Weakness of muscles of respiration0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0004347HP:0004347Weakness of muscles of respiration0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0004347HP:0004347Weakness of muscles of respiration0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0004347HP:0004347Weakness of muscles of respiration0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0004347HP:0004347Weakness of muscles of respiration0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic62
HP:0004347HP:0004347Weakness of muscles of respiration0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0004347HP:0004347Weakness of muscles of respiration0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndrome78
HP:0004347HP:0004347Weakness of muscles of respiration0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0004347HP:0004347Weakness of muscles of respiration0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0004347HP:0004347Weakness of muscles of respiration0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0004347HP:0004347Weakness of muscles of respiration0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0004347HP:0004347Weakness of muscles of respiration0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0004347HP:0004347Weakness of muscles of respiration0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0004347HP:0004347Weakness of muscles of respiration0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0004347HP:0004347Weakness of muscles of respiration0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0004347HP:0004347Weakness of muscles of respiration0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0004347HP:0004347Weakness of muscles of respiration0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0004347HP:0004347Weakness of muscles of respiration0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0004347HP:0004347Weakness of muscles of respiration0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel139
HP:0004347HP:0004347Weakness of muscles of respiration0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0004347HP:0004347Weakness of muscles of respiration0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0004347HP:0004347Weakness of muscles of respiration0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0004347HP:0004347Weakness of muscles of respiration0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0004347HP:0004347Weakness of muscles of respiration0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0004347HP:0004347Weakness of muscles of respiration0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0004347HP:0004347Weakness of muscles of respiration0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0004347HP:0004347Weakness of muscles of respiration0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 590
HP:0004347HP:0004347Weakness of muscles of respiration0CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0004347HP:0004347Weakness of muscles of respiration0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0004347HP:0004347Weakness of muscles of respiration0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0004347HP:0004347Weakness of muscles of respiration0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0004347HP:0004347Weakness of muscles of respiration0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0004347HP:0004347Weakness of muscles of respiration0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0004347HP:0004347Weakness of muscles of respiration0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0004347HP:0004347Weakness of muscles of respiration0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0004347HP:0004347Weakness of muscles of respiration0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0004347HP:0004347Weakness of muscles of respiration0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0004347HP:0004347Weakness of muscles of respiration0ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 1915
HP:0004347HP:0004347Weakness of muscles of respiration0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0004347HP:0004347Weakness of muscles of respiration0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0004347HP:0004347Weakness of muscles of respiration0FHL1 CL E G H22733702OMIM:300717Myopathy, reducing body, X-linked, early-onset, severe68
HP:0004347HP:0004347Weakness of muscles of respiration0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0004347HP:0004347Weakness of muscles of respiration0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0004347HP:0004347Weakness of muscles of respiration0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0004347HP:0004347Weakness of muscles of respiration0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0004347HP:0004347Weakness of muscles of respiration0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0004347HP:0004347Weakness of muscles of respiration0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0004347HP:0004347Weakness of muscles of respiration0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0004347HP:0004347Weakness of muscles of respiration0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0004347HP:0004347Weakness of muscles of respiration0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0004347HP:0004347Weakness of muscles of respiration0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent81
HP:0004347HP:0004347Weakness of muscles of respiration0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0004347HP:0004347Weakness of muscles of respiration0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0004347HP:0004347Weakness of muscles of respiration0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0004347HP:0004347Weakness of muscles of respiration0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0004347HP:0004347Weakness of muscles of respiration0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0004347HP:0004347Weakness of muscles of respiration0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0004347HP:0004347Weakness of muscles of respiration0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0004347HP:0004347Weakness of muscles of respiration0LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0004347HP:0004347Weakness of muscles of respiration0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0004347HP:0004347Weakness of muscles of respiration0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related645
HP:0004347HP:0004347Weakness of muscles of respiration0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 1011
HP:0004347HP:0004347Weakness of muscles of respiration0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0004347HP:0004347Weakness of muscles of respiration0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0004347HP:0004347Weakness of muscles of respiration0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0004347HP:0004347Weakness of muscles of respiration0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0004347HP:0004347Weakness of muscles of respiration0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B203
HP:0004347HP:0004347Weakness of muscles of respiration0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0004347HP:0004347Weakness of muscles of respiration0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0004347HP:0004347Weakness of muscles of respiration0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0004347HP:0004347Weakness of muscles of respiration0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0004347HP:0004347Weakness of muscles of respiration0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0004347HP:0004347Weakness of muscles of respiration0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0004347HP:0004347Weakness of muscles of respiration0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0004347HP:0004347Weakness of muscles of respiration0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0004347HP:0004347Weakness of muscles of respiration0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0004347HP:0004347Weakness of muscles of respiration0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0004347HP:0004347Weakness of muscles of respiration0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1A75
HP:0004347HP:0004347Weakness of muscles of respiration0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0004347HP:0004347Weakness of muscles of respiration0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0004347HP:0004347Weakness of muscles of respiration0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0004347HP:0004347Weakness of muscles of respiration0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0004347HP:0004347Weakness of muscles of respiration0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:0004347HP:0004347Weakness of muscles of respiration0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0004347HP:0004347Weakness of muscles of respiration0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4186
HP:0004347HP:0004347Weakness of muscles of respiration0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0004347HP:0004347Weakness of muscles of respiration0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1218
HP:0004347HP:0004347Weakness of muscles of respiration0PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0004347HP:0004347Weakness of muscles of respiration0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0004347HP:0004347Weakness of muscles of respiration0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0004347HP:0004347Weakness of muscles of respiration0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0004347HP:0004347Weakness of muscles of respiration0RYR1 CL E G H626110483ORPHA:597Central core disease1200
HP:0004347HP:0004347Weakness of muscles of respiration0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onset1200
HP:0004347HP:0004347Weakness of muscles of respiration0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0004347HP:0004347Weakness of muscles of respiration0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0004347HP:0004347Weakness of muscles of respiration0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0004347HP:0004347Weakness of muscles of respiration0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0004347HP:0004347Weakness of muscles of respiration0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0004347HP:0004347Weakness of muscles of respiration0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0004347HP:0004347Weakness of muscles of respiration0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004347HP:0004347Weakness of muscles of respiration0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0004347HP:0004347Weakness of muscles of respiration0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0004347HP:0004347Weakness of muscles of respiration0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0004347HP:0004347Weakness of muscles of respiration0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004347HP:0004347Weakness of muscles of respiration0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile287
HP:0004347HP:0004347Weakness of muscles of respiration0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0004347HP:0004347Weakness of muscles of respiration0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0004347HP:0004347Weakness of muscles of respiration0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0004347HP:0004347Weakness of muscles of respiration0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0004347HP:0004347Weakness of muscles of respiration0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0004347HP:0004347Weakness of muscles of respiration0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0004347HP:0004347Weakness of muscles of respiration0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia65
HP:0004347HP:0004347Weakness of muscles of respiration0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0004347HP:0004347Weakness of muscles of respiration0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0004347HP:0004347Weakness of muscles of respiration0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0004347HP:0004347Weakness of muscles of respiration0TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathy37
HP:0004347HP:0004347Weakness of muscles of respiration0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 271
HP:0004347HP:0004347Weakness of muscles of respiration0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency28
HP:0004347HP:0004347Weakness of muscles of respiration0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0004347HP:0004347Weakness of muscles of respiration0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0004347HP:0004347Weakness of muscles of respiration0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0004347HP:0004347Weakness of muscles of respiration0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0004347HP:0004347Weakness of muscles of respiration0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0004347HP:0004347Weakness of muscles of respiration0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0004347HP:0004347Weakness of muscles of respiration0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0004347HP:0004347Weakness of muscles of respiration0TRIP4 CL E G H932512310OMIM:617066Muscular dystrophy, congenital, Davignon-Chauveau type4
HP:0004347HP:0004347Weakness of muscles of respiration0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0004347HP:0004347Weakness of muscles of respiration0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0004347HP:0004347Weakness of muscles of respiration0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0004347HP:0004347Weakness of muscles of respiration0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0004347HP:0004347Weakness of muscles of respiration0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0004347HP:0004347Weakness of muscles of respiration0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0004347HP:0004347Weakness of muscles of respiration0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathy7128
HP:0004347HP:0004347Weakness of muscles of respiration0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0004347HP:0004347Weakness of muscles of respiration0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0004347HP:0004347Weakness of muscles of respiration0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004347HP:0004347Weakness of muscles of respiration0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0004347HP:0004347Weakness of muscles of respiration0YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 245
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0004347HP:0002203Respiratory paralysis1ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic.62
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional99
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2HP:0040283 - Occasional99
HP:0004347HP:0002203Respiratory paralysis1CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysisHP:0040284 - Very rare247
HP:0004347HP:0002203Respiratory paralysis1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040284 - Very rare247
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation.1
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 7HP:0040283 - Occasional35
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0004347HP:0012497Reduced maximal expiratory pressure1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0004347HP:0012497Reduced maximal expiratory pressure1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0004347HP:0012497Reduced maximal expiratory pressure1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0004347HP:0012497Reduced maximal expiratory pressure1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0004347HP:0002203Respiratory paralysis1CPOX CL E G H13712321OMIM:121300Coproporphyria.72
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1DES CL E G H16742770ORPHA:98909DesminopathyHP:0040282 - Frequent263
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional167
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare107
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 19.15
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1FHL1 CL E G H22733702OMIM:300717Myopathy, reducing body, X-linked, early-onset, severe.68
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare68
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0004347HP:0002203Respiratory paralysis1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040284 - Very rare
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0004347HP:0002203Respiratory paralysis1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0004347HP:0002203Respiratory paralysis1HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0004347HP:0002203Respiratory paralysis1KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysisHP:0040284 - Very rare73
HP:0004347HP:0002203Respiratory paralysis1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040284 - Very rare10
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient.411
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare645
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2BHP:0040283 - Occasional203
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040283 - Occasional11
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040284 - Very rare8
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional7
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional19
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy.
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0004347HP:0012496Reduced maximal inspiratory pressure1MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040283 - Occasional75
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0004347HP:0002203Respiratory paralysis1PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional1200
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040284 - Very rare1200
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040284 - Very rare1200
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0004347HP:0002203Respiratory paralysis1SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysisHP:0040284 - Very rare263
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathy144
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant.68
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare1129
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare508
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare171
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathyHP:0040283 - Occasional37
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2HP:0040283 - Occasional71
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040281 - Very frequent4
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TRIP4 CL E G H932512310OMIM:617066Muscular dystrophy, congenital, Davignon-Chauveau type.4
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathy7128
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040282 - Frequent7128
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004347HP:0002747Respiratory insufficiency due to muscle weakness1YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 2.45
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0004347HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness2VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2


Genes (110) :ACOX1 ACTA1 AGRN AGTPBP1 AIFM1 ALAD ASAH1 BICD2 BIN1 CACNA1S CCDC174 CFL2 CHAT CHRNA1 CHRNE CNTN1 COA8 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ CPOX CRYAB DES DMD DNM2 DOK7 DYM EMD ERBB4 ERGIC1 FHL1 GAA GABRA3 GFPT1 GIPC1 GLE1 HACD1 HMBS HNRNPA1 HNRNPA2B1 ITGA7 KBTBD13 KCNE3 KCNJ18 KLHL41 LAMA2 LMNA LMOD3 LRP12 MAP3K20 MATR3 MFN2 MGME1 MORC2 MPZ MTMR14 MYF6 MYH7 MYL1 MYL2 MYO9A MYOT MYPN NEB NOTCH2NLC ORAI1 PAX7 PLEKHG5 POLG POMK PPOX RNASEH1 RRM2B RYR1 SCN4A SCYL2 SELENON SLC18A3 SLC25A1 SLC25A4 SLC5A7 SNAP25 SPG11 SUCLA2 SURF1 SYNE1 SYNE2 SYT2 TARDBP TK2 TMEM43 TNNT1 TNPO3 TPI1 TPM2 TPM3 TRIP4 TRNL1 TRNL2 TRNN TRNS1 TTN UBA1 VAMP1 VCP YARS2

Diseases (90) :OMIM:618960 ORPHA:171439 ORPHA:2020 OMIM:255310 OMIM:161800 ORPHA:98914 OMIM:618276 OMIM:300816 OMIM:612740 OMIM:159950 ORPHA:2590 OMIM:618291 ORPHA:169189 OMIM:255200 ORPHA:681 ORPHA:79102 OMIM:616816 OMIM:610687 OMIM:254210 OMIM:601462 OMIM:608930 OMIM:605809 OMIM:608931 OMIM:612540 ORPHA:436271 ORPHA:610 ORPHA:1143 OMIM:158810 OMIM:254090 OMIM:603034 OMIM:121300 ORPHA:399058 OMIM:608810 ORPHA:98909 OMIM:601419 OMIM:310200 OMIM:254300 ORPHA:239 ORPHA:98863 OMIM:615515 OMIM:300718 OMIM:300717 ORPHA:308552 OMIM:232300 ORPHA:98897 OMIM:611890 ORPHA:79276 OMIM:176000 ORPHA:52430 OMIM:607855 ORPHA:98853 OMIM:613205 OMIM:616165 OMIM:164310 OMIM:606070 ORPHA:600 OMIM:617087 ORPHA:352447 ORPHA:466768 OMIM:618184 ORPHA:324604 OMIM:618414 ORPHA:266 OMIM:256030 OMIM:612782 OMIM:618578 OMIM:611067 OMIM:258450 OMIM:615249 ORPHA:79473 ORPHA:329336 ORPHA:597 ORPHA:424107 OMIM:617184 OMIM:602099 OMIM:612073 OMIM:220110 OMIM:619461 OMIM:612069 OMIM:609560 ORPHA:254875 ORPHA:98902 OMIM:608423 OMIM:615512 ORPHA:486815 OMIM:617066 ORPHA:663 ORPHA:178464 OMIM:301830 OMIM:613561
 

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