C1860518_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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