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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: MIM:614750


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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, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,364,546...46,380,545
Ensembl chr 9:46,364,936...46,380,544 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,321,761...46,331,078
Ensembl chr 9:46,321,817...46,331,078 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 OMIM
ClinVar		 PMID:9536098 PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,406,085...46,412,449
Ensembl chr 9:46,397,081...46,411,758 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,336,130...46,354,623
Ensembl chr 9:46,336,155...46,347,353 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,401,377...46,409,804
Ensembl chr 9:46,401,713...46,406,219 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates ClinVar PMID:22742743 PMID:28492532 NCBI chr 9:46,384,373...46,400,752
Ensembl chr 9:46,384,948...46,400,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15426
    physical disorder 5067
      congenital myasthenic syndrome 183
        congenital myasthenic syndrome 13 9
Path 2
Term Annotations click to browse term
  disease 15426
    disease of anatomical entity 15095
      nervous system disease 13248
        peripheral nervous system disease 4257
          neuropathy 4068
            neuromuscular disease 3139
              neuromuscular junction disease 209
                congenital myasthenic syndrome 183
                  congenital myasthenic syndrome 13 9
paths to the root