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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:Striatal Degeneration, Autosomal Dominant
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Accession:DOID:9006845 term browser browse the term
Synonyms:primary_id: MESH:C563783
 xref: OMIM:PS609161


show annotations for term's descendants           Sort by:
Striatal Degeneration, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
Striatal Degeneration, Autosomal Dominant 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde8b phosphodiesterase 8B ISO ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26475694 PMID:26769607 PMID:28492532 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
Striatal Degeneration, Autosomal Dominant 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde10a phosphodiesterase 10A ISO ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27058447 PMID:28492532 PMID:29159890 PMID:29165877 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Pathologic Processes 7983
        Nerve Degeneration 135
          Striatal Degeneration, Autosomal Dominant 2
            Striatal Degeneration, Autosomal Dominant 1 1
            Striatal Degeneration, Autosomal Dominant 2 1
paths to the root