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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: EFO:0010276
For additional species annotation, visit the Alliance of Genome Resources.



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Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30982612 NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    Developmental Disease 13067
      Neurodevelopmental Disorders 6202
        Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 1
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      nervous system disease 13207
        central nervous system disease 11363
          brain disease 10659
            disease of mental health 7548
              Neurodevelopmental Disorders 6202
                Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 1
paths to the root