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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:subacute sclerosing panencephalitis
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Accession:DOID:8970 term browser browse the term
Definition:A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant. (DO)
Synonyms:exact_synonym: SSPE;   Van Bogaert leukoencephalitis;   Van Bogaert's leukoencephalitis;   Van Bogaert's sclerosing leukoencephalitis;   Van Bogaerts leukoencephalitis;   immunosuppressive measles encephalitis;   inclusion body encephalitis, measles;   subacute sclerosing leukoencephalitides;   subacute sclerosing leukoencephalitis;   subacute sclerosing leukoencephalopathy;   subacute sclerosing panencephalitides
 primary_id: MESH:D013344
 alt_id: MIM:260470
 xref: EFO:0007502;   GARD:7708;   ICD10CM:A81.1;   ICD9CM:046.2;   NCI:C85171
For additional species annotation, visit the Alliance of Genome Resources.


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subacute sclerosing panencephalitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:insertion/deletion: RGD PMID:16741935 RGD:40400901 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ifnl1 interferon, lambda 1 ISO protein:increased expression:blood serum (human) RGD PMID:30077763 RGD:126848745 NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235 		JBrowse link
Nasu-Hakola disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 ClinVar PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 More... NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO
ISS		 ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
OMIM:221770
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 More... NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease by infectious agent 2253
      viral infectious disease 1716
        subacute sclerosing panencephalitis 4
          Nasu-Hakola disease 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease by infectious agent 2253
      viral infectious disease 1716
        RNA Virus Infections 1397
          Mononegavirales Infections 102
            Paramyxoviridae Infections 73
              Morbillivirus Infections 7
                measles 7
                  subacute sclerosing panencephalitis 4
                    Nasu-Hakola disease 2
paths to the root