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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 member 5 JBrowse link 1 105,270,418 105,336,369 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15271
      nervous system disease 10767
        central nervous system disease 8858
          hyperekplexia 8
            hyperekplexia 3 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15271
      nervous system disease 10767
        peripheral nervous system disease 2366
          neuropathy 2182
            neuromuscular disease 1716
              muscular disease 1128
                Muscle Rigidity 16
                  hyperekplexia 8
                    hyperekplexia 3 1
paths to the root

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