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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 3A
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Accession:DOID:0110666 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: CMS3A;   congenital myasthenic syndrome 3A, slow-channel
 primary_id: OMIM:616321


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congenital myasthenic syndrome 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnd cholinergic receptor nicotinic delta subunit ISO
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 3A
OMIM:616321		 OMIM
ClinVar
MouseDO		 PMID:11782989 PMID:25264167 PMID:25741868 PMID:28492532 PMID:32528171 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 3A 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  congenital myasthenic syndrome 3A 1
paths to the root