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

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 17
go back to main search page
Accession:DOID:0110674 term browser browse the term
Definition:A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: CMS17
 primary_id: OMIM:616304
 alt_id: RDO:9001485
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital myasthenic syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          congenital myasthenic syndrome 58
            congenital myasthenic syndrome 17 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            neuromuscular disease 1504
              neuromuscular junction disease 86
                congenital myasthenic syndrome 58
                  congenital myasthenic syndrome 17 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.