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Term:congenital myasthenic syndrome 2C
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Accession:DOID:0110680 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 ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS2C;   congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
 primary_id: OMIM:616314
 alt_id: RDO:9004859
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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

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Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          congenital myasthenic syndrome 57
            congenital myasthenic syndrome 2C 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              neuromuscular junction disease 85
                congenital myasthenic syndrome 57
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
                    congenital myasthenic syndrome 2C 1
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