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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


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Striatonigral Degeneration, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4i1 interleukin 4 induced 1 ISO ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile ClinVar PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Nup62 nucleoporin 62 ISO ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: Striatonigral degeneration infantile
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16786527 PMID:25741868 PMID:28492532 NCBI chr 1:95,298,995...95,314,902
Ensembl chr 1:95,295,526...95,315,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      multiple system atrophy 41
        striatonigral degeneration 5
          Striatonigral Degeneration, Infantile 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          neurodegenerative disease 4894
            synucleinopathy 407
              multiple system atrophy 41
                striatonigral degeneration 5
                  Striatonigral Degeneration, Infantile 2
paths to the root