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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 2A
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Accession:DOID:0110681 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS IIA;   CMS2A;   congenital myasthenic syndrome 2A slow-channel
 primary_id: OMIM:616313
 alt_id: RDO:9003082
For additional species annotation, visit the Alliance of Genome Resources.



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congenital myasthenic syndrome 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: CMS IIa ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2a, slow-channel OMIM
ClinVar
PMID:8651643 PMID:8872460 PMID:9536098 PMID:10562302 PMID:17576681 More... NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital myasthenic syndrome 91
        congenital myasthenic syndrome 2A 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              neuromuscular junction disease 118
                congenital myasthenic syndrome 91
                  congenital myasthenic syndrome 2A 2
paths to the root