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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 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:10562302, PMID:17686188, PMID:18414213, PMID:20562457, PMID:25741868, PMID:27375219, PMID:27391121, PMID:28492532 NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 2A 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 2A 1
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.