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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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 term: Congenital myasthenic syndrome 16 OMIM
ClinVar
PMID:7695243 PMID:9266738 PMID:12766226 PMID:12898257 PMID:15534250 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital myasthenic syndrome 134
        congenital myasthenic syndrome 16 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              neuromuscular junction disease 162
                congenital myasthenic syndrome 134
                  congenital myasthenic syndrome 16 1
paths to the root