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ONTOLOGY REPORT - ANNOTATIONS


Term:hyperekplexia 4
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Accession:DOID:0080581 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
 alt_id: DOID:9009212
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        hyperekplexia 7
          hyperekplexia 4 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            neuromuscular disease 1504
              muscular disease 941
                Muscle Rigidity 15
                  hyperekplexia 7
                    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.