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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 JBrowse link 10 40,851,955 40,954,364 RGD:7240710
RGD:8554872
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:13592920
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          hyperekplexia 8
            hyperekplexia 1 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        peripheral nervous system disease 2359
          neuropathy 2174
            neuromuscular disease 1706
              muscular disease 1120
                Muscle Rigidity 16
                  hyperekplexia 8
                    hyperekplexia 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.