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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: MIM:617493
 alt_id: DOID:9001978


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Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Neurodevelopmental Disorders 6962
        neurodevelopmental disorder with involuntary movements 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal dominant disease 6762
                neurodevelopmental disorder with involuntary movements 1
paths to the root