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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: GLRB-RELATED CONDITION;   HKPX2
 primary_id: OMIM:614619
 xref: ICD10CM:G25.8

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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 term: Hyperekplexia 2 OMIM
ClinVar		 PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chrNW_004955471:10,153,197...10,238,052
Ensembl chrNW_004955471:10,152,156...10,238,832 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          hyperekplexia 13
            hyperekplexia 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuromuscular disease 2847
              muscular disease 2000
                Muscle Rigidity 17
                  hyperekplexia 13
                    hyperekplexia 2 1
paths to the root