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Human disease

Property Value
dbo:description
  • human disease (en)
  • մարդու հիվանդություն (hy)
  • хвороба людини (uk)
dbo:omim
  • 192315 (xsd:integer)
dbo:orpha
  • 247691
dbo:thumbnail
dbo:wikiPageExternalLink
dbo:wikiPageWikiLink
dbp:caption
  • Diagram depicts the mode of inheritance of this condition (en)
dbp:causes
  • This disease is inherited . (en)
dbp:diagnosis
  • Genetic testing confirming a C-terminal frameshift mutation between the exonuclease domain and transmembrane domain--on only one allele--of the TREX1 gene. (en)
dbp:duration
  • Lifelong (en)
dbp:field
  • Rheumatology, neurology, ophthalmology, genetics (en)
dbp:name
  • Retinal vasculopathy with cerebral leukocencephalopathy (en)
dbp:omim
  • 192315 (xsd:integer)
dbp:onset
  • Onset usually around age 35-55. (en)
dbp:orphanet
  • 247691 (xsd:integer)
dbp:synonyms
  • Retinal vasculopathy with cerebral leukoencephalopathy (en)
dbp:wikiPageUsesTemplate
dct:subject
rdf:type
rdfs:label
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (en)
owl:sameAs
prov:wasDerivedFrom
foaf:depiction
foaf:isPrimaryTopicOf
foaf:name
  • Retinal vasculopathy with cerebral leukocencephalopathy (RVCL or RVCL-S) (en)
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