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

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 7
go back to main search page
Accession:DOID:0110659 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: CMS7;   MYSPC;   congenital myasthenic syndrome 7 presynaptic;   congenital presynaptic myasthenic syndrome with or without motor neuropathy
 primary_id: OMIM:616040
 alt_id: RDO:9001489
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital myasthenic syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syt2 synaptotagmin 2 JBrowse link 13 51,569,248 51,577,824 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 7 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 7 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.