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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 9
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Accession:DOID:0110670 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (DO)
Synonyms:exact_synonym: CMS9;   congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
 primary_id: OMIM:616325
 alt_id: RDO:9001490
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congenital myasthenic syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:8554872
RGD:7240710

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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 9 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 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.