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bn:16780224n
Noun Concept
Categories: Genetic disorders
EN
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy  Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations  Retinal vasculopathy with cerebral leukodystrophy  AD-RVCL  ADRVCL
EN
Retinal Vasculopathy with Cerebral Leukocencephalopathy and Systemic Manifestations is an inherited condition resulting from a frameshift mutation in the C-terminal region of the TREX1 gene. Wikipedia
Definitions
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Sources
EN
Retinal Vasculopathy with Cerebral Leukocencephalopathy and Systemic Manifestations is an inherited condition resulting from a frameshift mutation in the C-terminal region of the TREX1 gene. Wikipedia
human disease Wikidata
IS A
disease
rare disease
vascular disease
autoimmune connective tissue disorder
HAS KIND
HERNS syndrome
GENETIC ASSOCIATION
TREX1
Wikipedia
EN
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Wikidata
EN
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Wikipedia Redirections
EN
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Wikidata Alias
EN
AD-RVCL, ADRVCL, Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy, Cerebroretinal Vasculopathy, Cerebroretinal Vasculopathy, Hereditary, CRV, Grand-Kaine-Fulling syndrome, Grand Kaine Fulling syndrome, Hereditary Vascular Retinopathy, HVR, retinal vasculopathy and cerebral leukoencephalopathy, Retinal vasculopathy with cerebral leukodystrophy, retinal vasculopathy with cerebral leukodystrophy, Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena, RVCL, RVCL-S, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL

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