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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 3C
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Accession:DOID:0110664 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: CMS3C;   congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
 primary_id: OMIM:616323
 alt_id: RDO:9001488
For additional species annotation, visit the Alliance of Genome Resources.



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congenital myasthenic syndrome 3C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 3C OMIM
ClinVar
PMID:16916845 PMID:25741868 PMID:28492532 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital myasthenic syndrome 133
        congenital myasthenic syndrome 3C 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        peripheral nervous system disease 2993
          neuropathy 2780
            neuromuscular disease 2202
              neuromuscular junction disease 162
                congenital myasthenic syndrome 133
                  congenital myasthenic syndrome 3C 1
paths to the root