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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


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congenital myasthenic syndrome 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 16
ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive
ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 | ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive		 ClinVar PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:2173143 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Congenital myasthenic syndrome 16
ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 | ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive		 ClinVar
OMIM		 PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:1918277 More... NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital myasthenic syndrome 265
        congenital myasthenic syndrome 16 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5379
          neuropathy 5126
            neuromuscular disease 4040
              neuromuscular junction disease 296
                congenital myasthenic syndrome 265
                  congenital myasthenic syndrome 16 2
paths to the root