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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 19
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Accession:DOID:0110673 term browser browse the term
Definition:An autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency.
Synonyms:exact_synonym: CMS19
 primary_id: OMIM:616720
 alt_id: RDO:9000773
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col13a1 collagen type XIII alpha 1 chain ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 19 OMIM
ClinVar
PMID:25741868 PMID:26626625 PMID:31081514 NCBI chr20:31,456,502...31,598,360
Ensembl chr20:31,456,852...31,598,118
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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 19 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 19 1
paths to the root