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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 5
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Accession:DOID:0110667 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: CMS Ic;   CMS1C;   CMS5;   Congenital Myasthenic Syndrome Type Ic;   EAD;   Endplate Acetylcholinesterase Deficiency;   Engel Congenital Myasthenic Syndrome;   Myasthenic Syndrome, Congenital, Engel Type;   end plate acetylcholinesterase deficiency
 narrow_synonym: Myasthenic syndrome, congenital, COLQ-related;   Myasthenic syndrome, congenital, due to COLQ
 primary_id: MESH:C566415
 alt_id: OMIA:001928;   OMIM:603034;   RDO:0014775
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congenital myasthenic syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colq collagen like tail subunit of asymmetric acetylcholinesterase JBrowse link 16 7,626,380 7,681,621 RGD:7240710
RGD:8554872
RGD:11554173

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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 5 1
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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 5 1
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