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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 3B
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Accession:DOID:0110665 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: CMS3B;   congenital myasthenic syndrome 3B, fast-channel
 primary_id: OMIM:616322
 alt_id: RDO:9004317
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congenital myasthenic syndrome 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
RGD:8554872

Term paths to the root
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 3B 1
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, Fast-Channel 4
                    congenital myasthenic syndrome 3B 1
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