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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 19
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Accession:DOID:0110673 term browser browse the term
Definition:An autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency.
Synonyms:exact_synonym: CMS19
 primary_id: OMIM:616720
 alt_id: RDO:9000773
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congenital myasthenic syndrome 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col13a1 collagen type XIII alpha 1 chain JBrowse link 20 31,456,502 31,598,360 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 19 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 19 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.