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RGD uses the Human Disease Ontology (DO, 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
PMID:25741868, PMID:26626625, PMID:26637979, 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 19 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 19 1
paths to the root


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