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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

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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:11435464 PMID:16199547 PMID:16916845 PMID:23108489 PMID:25264167 More... NCBI chrNW_004936525:4,560,293...4,568,431
Ensembl chrNW_004936525:4,561,507...4,568,409 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital myasthenic syndrome 183
        congenital myasthenic syndrome 3C 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              neuromuscular junction disease 209
                congenital myasthenic syndrome 183
                  congenital myasthenic syndrome 3C 1
paths to the root