ONTOLOGY REPORT - ANNOTATIONS


Term:myasthenia gravis
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Accession:DOID:437 term browser browse the term
Definition:A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)
Synonyms:exact_synonym: generalized myasthenia gravis;   ocular myasthenia gravis
 primary_id: MESH:D009157
 alt_id: OMIM:254200;   RDO:0001051
 xref: GARD:7122
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        autoimmune disease of the nervous system 403
          myasthenia gravis 30
            Experimental Autoimmune Myasthenia Gravis 17
            Limb-Girdle Myasthenia, Autoimmune 0
            Myasthenia Gravis with Thymus Hyperplasia 0
            congenital myasthenic syndrome 6 1
            neonatal myasthenia gravis 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Immune & Inflammatory Diseases 3007
        immune system disease 2440
          hypersensitivity reaction disease 1488
            autoimmune hypersensitivity disease 1197
              autoimmune disease of the nervous system 403
                myasthenia gravis 30
                  Experimental Autoimmune Myasthenia Gravis 17
                  Limb-Girdle Myasthenia, Autoimmune 0
                  Myasthenia Gravis with Thymus Hyperplasia 0
                  congenital myasthenic syndrome 6 1
                  neonatal myasthenia gravis 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.