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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 rare, slowly progressive encephalitis caused by chronic infection with the MEASLES VIRUS. The condition occurs primarily in children and young adults, approximately 2-8 years after the initial infection. A gradual decline in intellectual abilities and behavioral alterations are followed by progressive MYOCLONUS; MUSCLE SPASTICITY; SEIZURES; DEMENTIA; autonomic dysfunction; and ATAXIA. DEATH usually occurs 1-3 years after disease onset. Pathologic features include perivascular cuffing, eosinophilic cytoplasmic inclusions, neurophagia, and fibrous gliosis. It is caused by the SSPE virus, which is a defective variant of MEASLES VIRUS. (From Adams et al., Principles of Neurology, 6th ed, pp767-8)
Synonyms:exact_synonym: SSPE;   Subacute Sclerosing Leukoencephalitis;   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 leukoencephalopathy;   subacute sclerosing panencephalitides
 primary_id: MESH:D013344
 alt_id: OMIM:260470
 xref: 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 IAGP DNA:insertion/deletion: RGD PMID:16741935 RGD:40400901 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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 IAGP ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ClinVar PMID:12080485, PMID:12754369, PMID:12925681, PMID:15883308, PMID:18546367, PMID:21834902, PMID:23399524, PMID:25615530, PMID:25741868, PMID:27995897, PMID:28492532, PMID:28768830, PMID:29142083 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP
EXP
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
ClinVar
OMIM
CTD
PMID:10888890, PMID:11109371, PMID:12370476, PMID:15883308, PMID:17125796, PMID:17430113, PMID:20500450, PMID:22082900, PMID:27658901, PMID:28492532, PMID:28620717 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease by infectious agent 2120
      viral infectious disease 1818
        subacute sclerosing panencephalitis 3
          Nasu-Hakola disease 2
Path 2
Term Annotations click to browse term
  disease 18864
    disease by infectious agent 2120
      viral infectious disease 1818
        RNA Virus Infections 1648
          Mononegavirales Infections 84
            Paramyxoviridae Infections 64
              Morbillivirus Infections 6
                measles 6
                  subacute sclerosing panencephalitis 3
                    Nasu-Hakola disease 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.