OBO ID: DOID:0111567 |
Term Name: | retinal vasculopathy with cerebral leukodystrophy | Search Ontology: | |
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Synonyms: |
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Definition: | A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/17660820 | ||
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Ontology: | Human Disease ( DOID:0111567 ) |
OTHER retinal vasculopathy with cerebral leukodystrophy PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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TREX1 | Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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