Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 2C
go back to main search page
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 ompound 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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital myasthenic syndrome 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit JBrowse link 10 56,390,671 56,403,255 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15036
    Developmental Diseases 7870
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7198
        genetic disease 6569
          congenital myasthenic syndrome 52
            congenital myasthenic syndrome 2C 1
Path 2
Term Annotations click to browse term
  disease 15036
    disease of anatomical entity 14171
      nervous system disease 9229
        peripheral nervous system disease 2010
          neuropathy 1827
            neuromuscular disease 1393
              neuromuscular junction disease 80
                congenital myasthenic syndrome 52
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
                    congenital myasthenic syndrome 2C 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.