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

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 3A
go back to main search page
Accession:DOID:0110666 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: CMS3A;   congenital myasthenic syndrome 3A, slow-channel
 primary_id: OMIM:616321
 alt_id: RDO:9003265
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital myasthenic syndrome 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          congenital myasthenic syndrome 57
            congenital myasthenic syndrome 3A 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              neuromuscular junction disease 85
                congenital myasthenic syndrome 57
                  congenital myasthenic syndrome 3A 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.