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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 2C
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Accession:DOID:0110680 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS2C;   congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
 primary_id: OMIM:616314
 alt_id: RDO:9004859


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congenital myasthenic syndrome 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2C OMIM
ClinVar		 PMID:10562302 PMID:25741868 PMID:28492532 PMID:32504635 PMID:33060286 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345 		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 2C 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
                    congenital myasthenic syndrome 2C 1
paths to the root