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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
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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
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        hyperekplexia 7
          hyperekplexia 1 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                Muscle Rigidity 15
                  hyperekplexia 7
                    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.