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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 2A
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Accession:DOID:0110681 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of 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 mutation in the CHRNB1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS IIA;   CMS2A;   congenital myasthenic syndrome 2A slow-channel
 primary_id: OMIM:616313
 alt_id: RDO:9003082
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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

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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 2A 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 2A 1
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