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

ONTOLOGY REPORT - ANNOTATIONS


Term:hyperekplexia 2
go back to main search page
Accession:DOID:0060697 term browser browse the term
Definition:A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. (DO)
Synonyms:exact_synonym: HKPX2
 primary_id: OMIM:614619
 alt_id: RDO:9000458
 xref: ICD10CM:G25.8
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hyperekplexia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrb glycine receptor, beta JBrowse link 2 179,768,040 179,842,612 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15271
      nervous system disease 10767
        central nervous system disease 8858
          hyperekplexia 8
            hyperekplexia 2 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15271
      nervous system disease 10767
        peripheral nervous system disease 2366
          neuropathy 2182
            neuromuscular disease 1716
              muscular disease 1128
                Muscle Rigidity 16
                  hyperekplexia 8
                    hyperekplexia 2 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.