FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:long QT syndrome 3
go back to main search page
Accession:DOID:0110646 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. (DO)
Synonyms:exact_synonym: LQT3;   Long QT Syndrome Type 3
 narrow_synonym: LONG QT SYNDROME 2/3, DIGENIC;   LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO;   LONG QT SYNDROME 3/6, DIGENIC;   LQT2/3, DIGENIC;   LQT3/6, DIGENIC
 primary_id: MESH:C537034;   MESH:C565840
 alt_id: OMIM:603830;   RDO:0002791;   RDO:0014375
 xref: GARD:3286
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
long QT syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 JBrowse link 11 32,434,786 32,447,264 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:7240710
RGD:8554872
RGD:13831293
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      long QT syndrome 177
        long QT syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Cardiovascular Abnormalities 781
            congenital heart disease 730
              long QT syndrome 177
                long QT syndrome 3 3
paths to the root