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ONTOLOGY REPORT - ANNOTATIONS


Term:hyperekplexia 3
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Accession:DOID:0060698 term browser browse the term
Definition:A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: HKPX3
 primary_id: OMIM:614618
 alt_id: RDO:9000459
 xref: ORDO:3197
For additional species annotation, visit the Alliance of Genome Resources.


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hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 JBrowse link 7 49,906,984 49,963,864 RGD:7240710
RGD:8554872
RGD:13592920

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 3 1
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 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.