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ONTOLOGY REPORT - ANNOTATIONS


Term:neuromuscular junction disease
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Accession:DOID:439 term browser browse the term
Definition:Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
Synonyms:exact_synonym: Neuromuscular Junction Disorder;   Neuromuscular Junction Disorders;   Neuromuscular Junction Toxic Disorders;   Neuromuscular Transmission Disorder;   Neuromuscular Transmission Disorders;   neuromuscular junction diseases
 primary_id: MESH:D020511;   RDO:0005039
For additional species annotation, visit the Alliance of Genome Resources.


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Compton-North congenital myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntn1 contactin 1 JBrowse link 7 133,290,606 133,588,314 RGD:7240710
RGD:8554872
congenital myasthenic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agrn agrin JBrowse link 5 173,589,910 173,622,813 RGD:8554872
RGD:11554173
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit JBrowse link 2 224,851,352 224,931,461 RGD:11554173
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase JBrowse link 5 63,187,466 63,192,025 RGD:11554173
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:8554872
RGD:11554173
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
RGD:11554173
G Chrne cholinergic receptor nicotinic epsilon subunit JBrowse link 10 57,238,960 57,246,750 RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:11554173
RGD:8554872
G Col13a1 collagen type XIII alpha 1 chain JBrowse link 20 31,456,502 31,598,360 RGD:11554173
G Colq collagen like tail subunit of asymmetric acetylcholinesterase JBrowse link 16 7,626,380 7,681,621 RGD:8554872
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:8554872
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:11554173
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 JBrowse link 4 118,852,046 118,901,583 RGD:8554872
RGD:11554173
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
G LOC687707 hypothetical protein LOC687707 JBrowse link 10 57,239,993 57,240,948 RGD:8554872
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:11554173
G Mink1 misshapen-like kinase 1 JBrowse link 10 57,185,310 57,238,531 RGD:8554872
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:8554872
G Myo9a myosin IXA JBrowse link 8 64,573,248 64,777,607 RGD:8554872
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
RGD:11554173
G Slc18a3 solute carrier family 18 member A3 JBrowse link 16 8,682,668 8,685,529 RGD:11554173
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:11554173
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:11554173
G Syt2 synaptotagmin 2 JBrowse link 13 51,569,248 51,577,824 RGD:11554173
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:8554872
congenital myasthenic syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:7240710
congenital myasthenic syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 JBrowse link 4 118,852,046 118,901,583 RGD:7240710
RGD:8554872
congenital myasthenic syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:7240710
RGD:8554872
congenital myasthenic syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase JBrowse link 5 63,187,466 63,192,025 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit JBrowse link 2 224,851,352 224,931,461 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
G Taco1 translational activator of cytochrome c oxidase I JBrowse link 10 94,260,148 94,268,276 RGD:8554872
congenital myasthenic syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col13a1 collagen type XIII alpha 1 chain JBrowse link 20 31,456,502 31,598,360 RGD:7240710
RGD:8554872
congenital myasthenic syndrome 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:5509810
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872
congenital myasthenic syndrome 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872
G Chrne cholinergic receptor nicotinic epsilon subunit JBrowse link 10 57,238,960 57,246,750 RGD:8554872
G LOC687707 hypothetical protein LOC687707 JBrowse link 10 57,239,993 57,240,948 RGD:8554872
congenital myasthenic syndrome 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Slc18a3 solute carrier family 18 member A3 JBrowse link 16 8,682,668 8,685,529 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:8554872
RGD:7240710
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:8554872
Congenital Myasthenic Syndrome 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a1 solute carrier family 25 member 1 JBrowse link 11 87,204,248 87,207,265 RGD:8554872
RGD:7240710
Congenital Myasthenic Syndrome 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo9a myosin IXA JBrowse link 8 64,573,248 64,777,607 RGD:8554872
RGD:7240710
Congenital Myasthenic Syndrome 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:7240710
RGD:8554872
congenital myasthenic syndrome 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
RGD:8554872
congenital myasthenic syndrome 3C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrne cholinergic receptor nicotinic epsilon subunit JBrowse link 10 57,238,960 57,246,750 RGD:7240710
RGD:8554872
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:8554872
G LOC687707 hypothetical protein LOC687707 JBrowse link 10 57,239,993 57,240,948 RGD:8554872
G Pfn1 profilin 1 JBrowse link 10 57,273,003 57,275,708 RGD:8554872
G Rnf167 ring finger protein 167 JBrowse link 10 57,268,331 57,272,667 RGD:8554872
G Slc25a11 solute carrier family 25 member 11 JBrowse link 10 57,265,903 57,268,018 RGD:8554872
congenital myasthenic syndrome 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrne cholinergic receptor nicotinic epsilon subunit JBrowse link 10 57,238,960 57,246,750 RGD:7240710
RGD:8554872
G LOC687707 hypothetical protein LOC687707 JBrowse link 10 57,239,993 57,240,948 RGD:8554872
congenital myasthenic syndrome 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:8554872
G Chrne cholinergic receptor nicotinic epsilon subunit JBrowse link 10 57,238,960 57,246,750 RGD:7240710
RGD:8554872
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:8554872
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 JBrowse link 4 118,852,046 118,901,583 RGD:11554173
G LOC687707 hypothetical protein LOC687707 JBrowse link 10 57,239,993 57,240,948 RGD:8554872
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:8554872
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
congenital myasthenic syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colq collagen like tail subunit of asymmetric acetylcholinesterase JBrowse link 16 7,626,380 7,681,621 RGD:7240710
RGD:8554872
RGD:11554173
congenital myasthenic syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:1600831
RGD:8554872
RGD:7240710
congenital myasthenic syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syt2 synaptotagmin 2 JBrowse link 13 51,569,248 51,577,824 RGD:8554872
RGD:7240710
congenital myasthenic syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 JBrowse link 5 173,340,060 173,354,756 RGD:8554872
G Agrn agrin JBrowse link 5 173,589,910 173,622,813 RGD:8554872
RGD:7240710
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:8554872
G C1qtnf12 C1q and TNF related 12 JBrowse link 5 173,390,901 173,395,276 RGD:8554872
G Ints11 integrator complex subunit 11 JBrowse link 5 173,318,435 173,336,930 RGD:8554872
G Mir200a microRNA 200a JBrowse link 5 173,489,366 173,489,454 RGD:8554872
G Mir200b microRNA 200b JBrowse link 5 173,490,144 173,490,238 RGD:8554872
G Mir429 microRNA 429 JBrowse link 5 173,488,331 173,488,415 RGD:8554872
G Pusl1 pseudouridine synthase like 1 JBrowse link 5 173,326,755 173,339,934 RGD:8554872
G RGD1311517 similar to RIKEN cDNA 9430015G10 JBrowse link 5 173,542,058 173,559,761 RGD:8554872
G Rnf223 ring finger protein 223 JBrowse link 5 173,561,016 173,566,844 RGD:8554872
G Sdf4 stromal cell derived factor 4 JBrowse link 5 173,425,922 173,444,478 RGD:8554872
G Tnfrsf18 TNF receptor superfamily member 18 JBrowse link 5 173,459,371 173,463,980 RGD:8554872
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link 5 173,447,784 173,450,474 RGD:8554872
G Ttll10 tubulin tyrosine ligase like 10 JBrowse link 5 173,471,020 173,517,783 RGD:8554872
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 JBrowse link 5 173,372,659 173,387,084 RGD:8554872
congenital myasthenic syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:8554872
RGD:7240710
Congenital Myasthenic Syndrome, Fast-Channel term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
RGD:11554173
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
RGD:11554173
G Chrne cholinergic receptor nicotinic epsilon subunit JBrowse link 10 57,238,960 57,246,750 RGD:8554872
RGD:11554173
G LOC687707 hypothetical protein LOC687707 JBrowse link 10 57,239,993 57,240,948 RGD:8554872
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:11554173
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:11554173
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:11554173
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:11554173
RGD:8554872
Experimental Autoimmune Myasthenia Gravis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arpc5 actin related protein 2/3 complex, subunit 5 JBrowse link 13 70,174,970 70,183,879 RGD:11049469
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7401263
RGD:11040804
G C6 complement C6 JBrowse link 2 54,460,333 54,533,801 RGD:1600670
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:8547800
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11041161
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:704386
G Ctsl cathepsin L JBrowse link 17 1,873,105 1,879,266 RGD:2315588
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:2311364
RGD:1598501
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:1598501
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:1598501
RGD:2311364
G Il15 interleukin 15 JBrowse link 19 23,542,606 23,624,366 RGD:1626617
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:5108250
G Il2ra interleukin 2 receptor subunit alpha JBrowse link 17 70,500,672 70,547,929 RGD:2325986
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:4889981
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:2317084
G Myog myogenin JBrowse link 13 51,126,459 51,129,048 RGD:9686077
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8549750
Lambert-Eaton myasthenic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:13592920
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:1626312
G Chrm1 cholinergic receptor, muscarinic 1 JBrowse link 1 224,869,087 224,885,101 RGD:5133415
Limb-Girdle Myasthenia, with Tubular Aggregates term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 JBrowse link 4 118,852,046 118,901,583 RGD:8554872
myasthenia gravis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:5509842
G Adrb2 adrenoceptor beta 2 JBrowse link 18 57,513,792 57,515,834 RGD:8548470
G Cfb complement factor B JBrowse link 20 4,536,206 4,542,073 RGD:11554173
G Chrm1 cholinergic receptor, muscarinic 1 JBrowse link 1 224,869,087 224,885,101 RGD:5133415
G Cxcl10 C-X-C motif chemokine ligand 10 JBrowse link 14 17,210,733 17,212,930 RGD:1598501
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:1598501
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:5509039
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662430
RGD:11554173
G Il2rb interleukin 2 receptor subunit beta JBrowse link 7 119,701,338 119,716,238 RGD:5684377
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484722
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147612
RGD:5147855
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147612
RGD:5147855
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365051
RGD:7365079

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        neuromuscular disease 1504
          neuromuscular junction disease 86
            Lambert-Eaton myasthenic syndrome 3
            botulism + 0
            congenital myasthenic syndrome + 58
            myasthenia gravis + 30
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        peripheral nervous system disease 2111
          neuropathy 1933
            neuromuscular disease 1504
              neuromuscular junction disease 86
                Lambert-Eaton myasthenic syndrome 3
                botulism + 0
                congenital myasthenic syndrome + 58
                myasthenia gravis + 30
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.