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:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 96 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | | | | 96 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | | | | 62 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | | | | 78 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | | | | 78 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | | | | 46 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | | | | 99 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | | | | 1 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | | | | 65 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | | | | 74 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | | | | 139 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | | | | 40 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | 3 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | | | | 442 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | | | | 478 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | | | | 702 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | | | | 90 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | | | | 72 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | | | | 46 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | | | | 46 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | | | | 263 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | | | | 263 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | | | | 91 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ERBB4 CL E G H | 2066 | 3432 | OMIM:615515 | Amyotrophic lateral sclerosis 19 | | | | 15 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | | | | 68 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | | | | 68 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | | 407 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | | | | 81 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 31 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 5 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 127 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | | | | 645 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | | | | 11 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | | | | 80 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | | | | 80 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | | | | 203 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | | | | 11 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | | | | 1269 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1269 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 131 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | | | | 75 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | | | | 19 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | | | | 186 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | | | | 18 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | | | | 41 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 3 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 125 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | | | | 1200 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | | | | 1200 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1200 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | | | | 144 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 144 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | | | | 68 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | | | | 287 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | | | | 66 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | 73 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | | | | 65 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | | | | 103 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | | | | 37 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | | | | 71 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | | | | 28 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 54 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 108 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | | 4 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:617066 | Muscular dystrophy, congenital, Davignon-Chauveau type | | | | 4 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | | | | 7128 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 63 | | |
HP:0004347 | HP:0004347 | Weakness of muscles of respiration | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | | | | 45 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | . | | | 60 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | . | | | 62 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | HP:0040282 - Frequent | | | 78 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | . | | | 46 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | HP:0040283 - Occasional | | | 99 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 247 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | 247 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | . | | | 1 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | HP:0040283 - Occasional | | | 35 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0004347 | HP:0012497 | Reduced maximal expiratory pressure | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0004347 | HP:0012497 | Reduced maximal expiratory pressure | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 442 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | | | 442 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0004347 | HP:0012497 | Reduced maximal expiratory pressure | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 478 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | | | 478 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0004347 | HP:0012497 | Reduced maximal expiratory pressure | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 702 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | | | 702 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040283 - Occasional | | | 46 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | HP:0040282 - Frequent | | | 263 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | | | | 263 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | . | | | 91 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 107 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ERBB4 CL E G H | 2066 | 3432 | OMIM:615515 | Amyotrophic lateral sclerosis 19 | . | | | 15 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | . | | | 68 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | . | | | 68 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 68 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040282 - Frequent | | | 407 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 127 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 73 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | 10 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | . | | | 411 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 645 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | . | | | 11 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | . | | | 80 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | HP:0040283 - Occasional | | | 203 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040284 - Very rare | | | 8 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | . | | | 134 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | | | | 1269 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | . | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 131 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0004347 | HP:0012496 | Reduced maximal inspiratory pressure | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040283 - Occasional | | | 75 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | . | | | 18 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040284 - Very rare | | | 1200 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040284 - Very rare | | | 1200 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0004347 | HP:0002203 | Respiratory paralysis | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 263 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | | | | 144 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:617184 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | . | | | 68 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | . | | | 287 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 1129 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 508 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | . | | | 65 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040284 - Very rare | | | 171 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | HP:0040283 - Occasional | | | 37 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | HP:0040283 - Occasional | | | 71 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TRIP4 CL E G H | 9325 | 12310 | OMIM:617066 | Muscular dystrophy, congenital, Davignon-Chauveau type | . | | | 4 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | | | | 7128 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040282 - Frequent | | | 7128 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004347 | HP:0002747 | Respiratory insufficiency due to muscle weakness | 1 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | . | | | 45 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 127 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 65 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | . | | | 74 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 6 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 28 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 9 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 4 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0004347 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 2 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |