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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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           Sort by:
 
hyperekplexia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by OMIM:614619
ClinVar Annotator: match by term: Hyperekplexia 2
OMIM
ClinVar
PMID:11929858, PMID:21391991, PMID:23184146, PMID:28492532 NCBI chr 2:179,768,040...179,842,612
Ensembl chr 2:179,769,009...179,842,547
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          hyperekplexia 8
            hyperekplexia 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                Muscle Rigidity 22
                  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.