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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: RDO:9003165
For additional species annotation, visit the Alliance of Genome Resources.


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hyperekplexia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glra1 glycine receptor, alpha 1 subunit JBrowse link 11 55,514,239 55,608,198 RGD:7240710
RGD:8554872
RGD:13592920
G Gphn gephyrin JBrowse link 12 78,217,325 78,684,772 RGD:13592920
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13272
    disease of anatomical entity 12755
      nervous system disease 10288
        central nervous system disease 8605
          hyperekplexia 8
            hyperekplexia 1 2
Path 2
Term Annotations click to browse term
  disease 13272
    disease of anatomical entity 12755
      nervous system disease 10288
        peripheral nervous system disease 2365
          neuropathy 2193
            neuromuscular disease 1736
              muscular disease 1147
                Muscle Rigidity 16
                  hyperekplexia 8
                    hyperekplexia 1 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.