Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 23
go back to main search page
Accession:DOID:9009245 term browser browse the term
Synonyms:exact_synonym: CMS23;   congenital myasthenic syndrome 23, presynaptic
 primary_id: OMIM:618197
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Congenital Myasthenic Syndrome 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 23, presynaptic OMIM
ClinVar
PMID:26870663 PMID:31527857 PMID:31808147 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    physical disorder 4091
      congenital myasthenic syndrome 134
        Congenital Myasthenic Syndrome 23 1
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        peripheral nervous system disease 2990
          neuropathy 2782
            neuromuscular disease 2200
              neuromuscular junction disease 162
                congenital myasthenic syndrome 134
                  Congenital Myasthenic Syndrome 23 1
paths to the root