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ONTOLOGY REPORT - ANNOTATIONS


Term:Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive
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Accession:DOID:9009115 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. (OMIM)
Synonyms:exact_synonym: NDHMSR;   autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures
 narrow_synonym: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
 primary_id: OMIM:617820
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            disease of mental health 5617
              Neurodevelopmental Disorders 4162
                Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.