ONTOLOGY REPORT - ANNOTATIONS


Term:Hyperekplexia 4
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Accession:DOID:9009212 term browser browse the term
Definition:An autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Most patients die in the first months of life due to respiratory failure or other complications.
Synonyms:exact_synonym: HKPX4
 primary_id: OMIM:618011
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Hyperekplexia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad1 ATPase family, AAA domain containing 1 JBrowse link 1 251,234,702 251,386,996 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        hyperekplexia 8
          Hyperekplexia 4 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        peripheral nervous system disease 2022
          neuropathy 1841
            neuromuscular disease 1417
              muscular disease 914
                Muscle Rigidity 16
                  hyperekplexia 8
                    Hyperekplexia 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.