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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: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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 15 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.