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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
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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:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chr 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          hyperekplexia 8
            hyperekplexia 2 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        peripheral nervous system disease 2569
          neuropathy 2364
            neuromuscular disease 1882
              muscular disease 1285
                Muscle Rigidity 15
                  hyperekplexia 8
                    hyperekplexia 2 1
paths to the root