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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 3B
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Accession:DOID:0110665 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: CMS3B;   congenital myasthenic syndrome 3B, fast-channel
 primary_id: MIM:616322


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congenital myasthenic syndrome 3B 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 3B OMIM
ClinVar		 PMID:11435464 PMID:12499478 PMID:16199547 PMID:16916845 PMID:18252226 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 19050
    physical disorder 5170
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 3B 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        peripheral nervous system disease 4263
          neuropathy 4049
            neuromuscular disease 3191
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  Congenital Myasthenic Syndrome, Fast-Channel 5
                    congenital myasthenic syndrome 3B 1
paths to the root