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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.

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congenital myasthenic syndrome 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by OMIM:614198
ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive
PMID:7695243, PMID:9266738, PMID:10944223, PMID:12766226, PMID:12898257, PMID:15482957, PMID:15534250, PMID:15774523, PMID:18046642, PMID:18337100, PMID:18414213, PMID:19118277, PMID:20522878, PMID:20681998, PMID:20981092, PMID:23884711, PMID:25326635, PMID:25348405, PMID:25707578, PMID:25741868, PMID:25839108, PMID:26423924, PMID:26427606, PMID:26467025, PMID:26484179, PMID:26700687, PMID:27714768, PMID:27858759, PMID:28492532, PMID:29606556 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 16 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 16 1
paths to the root


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