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ONTOLOGY REPORT - ANNOTATIONS


Term:NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
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Accession:DOID:9001474 term browser browse the term
Definition:An autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding.
Synonyms:exact_synonym: NEDNEH
 primary_id: OMIM:618497
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NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:8554872
RGD:7240710

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  disease 15626
    Developmental Diseases 8759
      Neurodevelopmental Disorders 4072
        NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            disease of mental health 5520
              Neurodevelopmental Disorders 4072
                NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.