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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:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: CMS19
 primary_id: OMIM:616720
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: Congenital myasthenic syndrome 19 OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:26626625 PMID:28492532 PMID:30767057 More... NCBI chr20:29,783,965...29,924,116
Ensembl chr20:29,783,965...29,924,032
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital myasthenic syndrome 133
        congenital myasthenic syndrome 19 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              neuromuscular junction disease 162
                congenital myasthenic syndrome 133
                  congenital myasthenic syndrome 19 1
paths to the root