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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 18
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Accession:DOID:0110683 term browser browse the term
Definition:An autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia. (OMIM)
Synonyms:exact_synonym: CMS18
 narrow_synonym: congenital myasthenic syndrome 18 with intellectual disability and ataxia
 primary_id: OMIM:616330
 alt_id: RDO:9001459
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congenital myasthenic syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          congenital myasthenic syndrome 57
            congenital myasthenic syndrome 18 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              neuromuscular junction disease 85
                congenital myasthenic syndrome 57
                  congenital myasthenic syndrome 18 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.