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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 16
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Accession:DOID:0110682 term browser browse the term
Definition:A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: CMS16;   congenital myasthenic syndrome, acetazolamide-responsive;   myasthenic syndrome due to mutation in SCN4A
 primary_id: MESH:C565830
 alt_id: OMIM:614198;   RDO:0014367;   RDO:9000585
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congenital myasthenic syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
G Taco1 translational activator of cytochrome c oxidase I JBrowse link 10 94,260,148 94,268,276 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          congenital myasthenic syndrome 57
            congenital myasthenic syndrome 16 5
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            neuromuscular disease 1521
              neuromuscular junction disease 85
                congenital myasthenic syndrome 57
                  congenital myasthenic syndrome 16 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.