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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: MIM: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 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 19047
    physical disorder 5170
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 3C 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      nervous system disease 14255
        peripheral nervous system disease 4261
          neuropathy 4047
            neuromuscular disease 3189
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  congenital myasthenic syndrome 3C 1
paths to the root