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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:15771971, PMID:22304930, PMID:22492991, PMID:22742743, PMID:22786653, PMID:23249953, PMID:23430862, PMID:23591138, PMID:24759841, PMID:25500013, PMID:25741868, PMID:26033833, 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 13 9
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 13 9
paths to the root

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