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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 involuntary movements
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Accession:DOID:0112276 term browser browse the term
Definition:A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: NEDIM
 broad_synonym: GNAO1-RELATED CONDITION
 primary_id: OMIM:617493
 alt_id: DOID:9001978


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neurodevelopmental disorder with involuntary movements term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: GNAO1-Related Condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with involuntary movements OMIM
ClinVar		 PMID:23993195 PMID:25356970 PMID:25533962 PMID:25590979 PMID:25741868 More... NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,416,708...29,592,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Neurodevelopmental Disorders 6635
        neurodevelopmental disorder with involuntary movements 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6055
                neurodevelopmental disorder with involuntary movements 1
paths to the root