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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: CACNA1B-RELATED CONDITION;   NEDNEH
 primary_id: OMIM:618497
 xref: EFO:0010276


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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 AL772363.1 novel transcript, antisense to CACNA1B and EHMT1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
ClinVar Annotator: match by term: CACNA1B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements		 ClinVar PMID:25741868 NCBI chr 9:137,867,925...137,892,570
Ensembl chr 9:137,867,925...137,892,570 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP ClinVar Annotator: match by term: CACNA1B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G LOC101928786 uncharacterized LOC101928786 IAGP ClinVar Annotator: match by term: CACNA1B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:138,040,503...138,045,071 JBrowse link
G LOC108254695 9q34.3 CACNA1B recombination region IAGP ClinVar Annotator: match by term: CACNA1B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:138,013,213...138,013,457 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Neurodevelopmental Disorders 13563
        Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              Neurodevelopmental Disorders 13563
                Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 4
paths to the root