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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:Childhood-Onset Chorea with Psychomotor Retardation
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Accession:DOID:9003973 term browser browse the term
Synonyms:exact_synonym: COCPMR
 primary_id: OMIM:616939
For additional species annotation, visit the Alliance of Genome Resources.


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Childhood-Onset Chorea with Psychomotor Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr88 G-protein coupled receptor 88 ISO ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation ClinVar
OMIM
PMID:27123486 NCBI chr 2:219,258,346...219,263,819
Ensembl chr 2:219,258,347...219,262,901
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          movement disease 1159
            choreatic disease 175
              Childhood-Onset Chorea with Psychomotor Retardation 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                choreatic disease 175
                  Childhood-Onset Chorea with Psychomotor Retardation 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.