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
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hyperekplexia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a5 solute carrier family 6 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        hyperekplexia 8
          hyperekplexia 3 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                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.