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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:progressive multifocal leukoencephalopathy
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Accession:DOID:643 term browser browse the term
Definition:A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. (DO)
Synonyms:exact_synonym: JC polyomavirus encephalitis;   JC polyomavirus encephalopathies;   JC polyomavirus encephalopathy;   PML;   progressive multifocal leukoencephalopathies
 primary_id: MESH:D007968
 xref: EFO:0007455;   GARD:7468;   ICD10CM:A81.2;   ICD9CM:046.3;   NCI:C26815
For additional species annotation, visit the Alliance of Genome Resources.


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progressive multifocal leukoencephalopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain ISO associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human) RGD PMID:33903203 PMID:30761586 RGD:127284888, RGD:127285025 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease by infectious agent 2214
      viral infectious disease 1680
        Slow Virus Diseases 49
          progressive multifocal leukoencephalopathy 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            encephalitis 109
              Infectious Encephalitis 87
                viral encephalitis 87
                  progressive multifocal leukoencephalopathy 1
paths to the root