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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 GNAO1 on chromosome 16q13. (DO)
Synonyms:exact_synonym: NEDIM
 primary_id: OMIM:617493
 alt_id: DOID:9001978
For additional species annotation, visit the Alliance of Genome Resources.


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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: Neurodevelopmental disorder with involuntary movements ClinVar
OMIM
PMID:23993195 PMID:25356970 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26795593 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:27916449 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28628939 PMID:28688840 PMID:28747448 PMID:29761117 PMID:31406558 PMID:32581362 NCBI chr19:11,513,201...11,669,578
Ensembl chr19:11,513,201...11,669,578
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Neurodevelopmental Disorders 5664
        neurodevelopmental disorder with involuntary movements 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                neurodevelopmental disorder with involuntary movements 1
paths to the root