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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: MIM:616939


show annotations for term's descendants           Sort by:
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 OMIM
ClinVar		 PMID:25741868 PMID:27123486 PMID:28492532 NCBI chr 2:204,191,443...204,199,576
Ensembl chr 2:204,191,427...204,199,733 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          movement disease 2626
            choreatic disease 470
              Childhood-Onset Chorea with Psychomotor Retardation 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            movement disease 2626
              Dyskinesias 2228
                choreatic disease 470
                  Childhood-Onset Chorea with Psychomotor Retardation 1
paths to the root