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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:Motor Disorders
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Accession:DOID:9008297 term browser browse the term
Definition:Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age. (from DSM-V)
Synonyms:primary_id: MESH:D000068079;   RDO:0016009
For additional species annotation, visit the Alliance of Genome Resources.



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Motor Disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31174552 NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29326173 NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities ClinVar PMID:25741868 PMID:33242881 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              Motor Disorders 2
                NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES 0
paths to the root