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Term:congenital myasthenic syndrome 4A
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Accession:DOID:0110678 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS Ia1;   CMS1A1;   CMS4A;   Congenital Myasthenic Syndrome Type Ia1;   MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL;   Myasthenia, Familial Infantile, 1;   congenital myasthenic syndrometype Ia1
 primary_id: MESH:C565289
 alt_id: OMIM:605809;   RDO:0013968
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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
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

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          congenital myasthenic syndrome 57
            congenital myasthenic syndrome 4A 6
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              neuromuscular junction disease 85
                congenital myasthenic syndrome 57
                  congenital myasthenic syndrome 4A 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.