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Striatal Degeneration, Autosomal Dominant 1 - Ontology Report - Rat Genome Database

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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 1
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Accession:DOID:9002743 term browser browse the term
Synonyms:exact_synonym: ADSD1
 broad_synonym: PDE8B-RELATED CONDITION
 primary_id: MIM:609161

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Striatal Degeneration, Autosomal Dominant 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE8B phosphodiesterase 8B IAGP ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 ClinVar
OMIM		 PMID:24033266 PMID:25741868 PMID:26475694 PMID:26769607 PMID:28492532 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    Pathological Conditions, Signs and Symptoms 69499
      Pathologic Processes 34415
        Nerve Degeneration 138
          Striatal Degeneration, Autosomal Dominant 2
            Striatal Degeneration, Autosomal Dominant 1 1
Path 2
Term Annotations click to browse term
  disease 147117
    Developmental Disease 49460
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42944
        genetic disease 40723
          monogenic disease 23695
            autosomal genetic disease 22052
              autosomal dominant disease 15018
                Striatal Degeneration, Autosomal Dominant 2
                  Striatal Degeneration, Autosomal Dominant 1 1
paths to the root