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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
For additional species annotation, visit the Alliance of Genome Resources.



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
ClinVar Annotator: match by OMIM:609161
OMIM
ClinVar
PMID:20085714 PMID:24033266 PMID:25741868 PMID:26475694 PMID:26769607 More... NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
JBrowse link
G Wdr41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 ClinVar NCBI chr 2:26,222,797...26,273,840
Ensembl chr 2:26,224,495...26,273,836
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 ClinVar
OMIM
PMID:25741868 PMID:27058447 PMID:29159890 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 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Nerve Degeneration 132
          Striatal Degeneration, Autosomal Dominant 3
            Striatal Degeneration, Autosomal Dominant 1 2
            Striatal Degeneration, Autosomal Dominant 2 1
paths to the root