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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 18
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Accession:DOID:0110683 term browser browse the term
Definition:An autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia. (OMIM)
Synonyms:exact_synonym: CMS18
 narrow_synonym: congenital myasthenic syndrome 18 with intellectual disability and ataxia
 primary_id: OMIM:616330
 alt_id: RDO:9001459
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 18 ClinVar
OMIM
PMID:25381298 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:129,697,408...129,788,417
Ensembl chr 3:129,599,353...129,788,400
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital myasthenic syndrome 88
        congenital myasthenic syndrome 18 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              neuromuscular junction disease 115
                congenital myasthenic syndrome 88
                  congenital myasthenic syndrome 18 1
paths to the root