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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, Infantile
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Accession:DOID:9008334 term browser browse the term
Synonyms:exact_synonym: IBSN;   SNDI;   familial striatal degeneration;   infantile bilateral striatal necrosis
 primary_id: MESH:C537500
 alt_id: OMIM:271930


show annotations for term's descendants           Sort by:
Striatonigral Degeneration, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4I1 interleukin 4 induced 1 IAGP ClinVar Annotator: match by term: Infantile bilateral striatal necrosis
ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile
ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE		 ClinVar PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr19:49,889,654...49,929,504
Ensembl chr19:49,889,654...49,929,539 		JBrowse link
G NUP62 nucleoporin 62 IAGP
EXP		 ClinVar Annotator: match by term: Infantile bilateral striatal necrosis
ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile		 ClinVar
OMIM
CTD		 PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      multiple system atrophy 49
        striatonigral degeneration 6
          Striatonigral Degeneration, Infantile 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          neurodegenerative disease 6566
            synucleinopathy 454
              multiple system atrophy 49
                striatonigral degeneration 6
                  Striatonigral Degeneration, Infantile 2
paths to the root