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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:Striatonigral Degeneration, Childhood-Onset
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Accession:DOID:9000686 term browser browse the term
Synonyms:exact_synonym: LENK-PLOSKI SYNDROME;   SNDC
 primary_id: OMIM:617054


show annotations for term's descendants           Sort by:
Striatonigral Degeneration, Childhood-Onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vac14 Vac14 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27292112 PMID:28492532 NCBI chr 8:111,345,161...111,447,030
Ensembl chr 8:111,345,217...111,447,030 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      multiple system atrophy 41
        striatonigral degeneration 5
          Striatonigral Degeneration, Childhood-Onset 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          neurodegenerative disease 4811
            synucleinopathy 401
              multiple system atrophy 41
                striatonigral degeneration 5
                  Striatonigral Degeneration, Childhood-Onset 1
paths to the root