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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 12
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Accession:DOID:0110660 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: CMS12;   CMSTA1;   Myasthenic Syndrome, Congenital, with Tubular Aggregates 1;   congenital myasthenia 12 with tubular aggregates
 primary_id: OMIM:610542
 alt_id: RDO:9000586
 xref: NCI:C168997
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO ClinVar Annotator: match by OMIM:610542
ClinVar Annotator: match by term: Congenital myasthenic syndrome 12
ClinVar Annotator: match by term: Congenital myasthenic syndrome with tubular aggregates 1
OMIM
ClinVar
PMID:8664562 PMID:12467753 PMID:18414213 PMID:21310273 PMID:23488891 PMID:23794683 PMID:24033266 PMID:25741868 PMID:25765662 PMID:26467025 PMID:28464723 PMID:28492532 PMID:28712002 PMID:29054425 PMID:30635494 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
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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 12 1
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 12 1
paths to the root