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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 15
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Accession:DOID:0110658 term browser browse the term
Definition:One of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness. (OIM)
Synonyms:exact_synonym: CMS15;   CMSWTA;   congenital myasthenic syndrome 15 without tubular aggregates;   congenital myasthenic syndrome without tubular aggregates
 primary_id: OMIM:616227
 alt_id: RDO:9001469
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, without tubular aggregates
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15
ClinVar
OMIM
PMID:23404334 PMID:25741868 PMID:28492532 PMID:28733338 NCBI chr 2:224,851,352...224,931,461
Ensembl chr 2:224,851,383...224,931,459
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital myasthenic syndrome 87
        congenital myasthenic syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 15 1
paths to the root