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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
 broad_synonym: GNAO1-RELATED CONDITION
 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 OMIM
ClinVar
PMID:23993195 PMID:25356970 PMID:25533962 PMID:25741868 PMID:25966631 More... NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Neurodevelopmental Disorders 6142
        neurodevelopmental disorder with involuntary movements 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                neurodevelopmental disorder with involuntary movements 1
paths to the root