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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 1
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Accession:DOID:0060696 term browser browse the term
Definition:A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: HKPX1;   hereditary hyperekplexia 1
 primary_id: OMIM:149400
For additional species annotation, visit the Alliance of Genome Resources.


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hyperekplexia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO ClinVar Annotator: match by term: Hyperekplexia 1 OMIM
ClinVar		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162 		JBrowse link
G Gphn gephyrin ISS
ISO		 OMIM:149400
ClinVar Annotator: match by term: Hyperekplexia 1		 MouseDO
ClinVar		 PMID:12684523 PMID:25741868 PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          hyperekplexia 8
            hyperekplexia 1 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          neuropathy 2767
            neuromuscular disease 2186
              muscular disease 1418
                Muscle Rigidity 13
                  hyperekplexia 8
                    hyperekplexia 1 2
paths to the root