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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 13
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Accession:DOID:0110676 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: CMS13;   CMSTA2;   congenital myasthenic syndrome 13 with tubular aggregates;   congenital myasthenic syndrome with tubular aggregates 2
 primary_id: OMIM:614750
 alt_id: RDO:9000587
For additional species annotation, visit the Alliance of Genome Resources.

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congenital myasthenic syndrome 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592 		JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722 		JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
ClinVar Annotator: match by OMIM:614750
ClinVar Annotator: match by term: Congenital myasthenic syndrome 13		 OMIM
ClinVar		 PMID:12872255 PMID:22742743 PMID:23249953 PMID:24759841 PMID:25500013 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28662078 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867 		JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 ClinVar PMID:28492532 NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353 		JBrowse link
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 13 9
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 13 9
paths to the root