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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 OMIM:614198
ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive
OMIM
ClinVar
PMID:7695243 PMID:9266738 PMID:12766226 PMID:12898257 PMID:15534250 PMID:15774523 PMID:18046642 PMID:18337100 PMID:18414213 PMID:20522878 PMID:20681998 PMID:20981092 PMID:23884711 PMID:25326635 PMID:25348405 PMID:25707578 PMID:25741868 PMID:26423924 PMID:26467025 PMID:27714768 PMID:27858759 PMID:28166811 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 16909
    physical disorder 2917
      congenital myasthenic syndrome 89
        congenital myasthenic syndrome 16 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              neuromuscular junction disease 116
                congenital myasthenic syndrome 89
                  congenital myasthenic syndrome 16 1
paths to the root