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Term:congenital myasthenic syndrome 4C
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Accession:DOID:0110679 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS Id;   CMS1D;   CMS4C;   FIM1;   MYASTHENIA, FAMILIAL INFANTILE, 1;   MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY;   Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency;   Myasthenic Syndrome, Congenital, Postsynaptic, Associated With Acetylcholine Receptor Deficiency;   congenital myasthenic syndrome type Id
 primary_id: MESH:C536090
 alt_id: OMIM:608931;   RDO:0001519;   RDO:0009258
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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
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

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Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          congenital myasthenic syndrome 58
            congenital myasthenic syndrome 4C 8
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            neuromuscular disease 1504
              neuromuscular junction disease 86
                congenital myasthenic syndrome 58
                  congenital myasthenic syndrome 4C 8
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