JSON

retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

^ http://purl.obolibrary.org/obo/MONDO_0008641

An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. [ Orphanet:247691 ]

Term info

database cross reference
  • MESH:C566007 (MONDO:equivalentTo)
  • DOID:0111567 (MONDO:equivalentTo)
  • GARD:0002558 (Orphanet:3421)
  • SCTID:720854004 (MONDO:equivalentTo)
  • OMIM:192315 (Orphanet:247691/e)
  • UMLS:C1860518 (Orphanet:247691)
  • SCTID:721141004 (MONDO:equivalentObsolete)
  • GARD:0010535 (MONDO:equivalentTo)
  • GARD:0001217 (Orphanet:247691)
  • Orphanet:247691 (OMIM:192315)
Subsets

gard_rare, ordo_disease

abbreviation
RVCL [ MONDO:Lexical OMIM:192315 Orphanet:247691 GARD:0001217 ]

abbreviation
HVR [ GARD:0010535 ]

abbreviation
CRV [ GARD:0001217 ]

abbreviation
ADRVCL [ GARD:0001217 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

comment

Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1

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 (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_247691, https://omim.org/entry/192315, http://linkedlifedata.com/resource/umls/id/C1860518, http://identifiers.org/mesh/C566007, http://purl.obolibrary.org/obo/DOID_0111567, http://identifiers.org/snomedct/720854004

has exact synonym

retinal vasculopathy and cerebral leukoencephalopathy, hereditary vascular retinopathy, RVCL-S, RVCL, vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations

has related synonym

retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena, retinal vasculopathy with cerebral leukodystrophy, cerebroretinal vasculopathy, grand-Kaine-fulling syndrome, autosomal dominant retinal vasculopathy with cerebral leukodystrophy, HVR, grand Kaine fulling syndrome, CRV, cerebroretinal vasculopathy, hereditary, vasculopathy, retinal, with cerebral leukodystrophy, ADRVCL

id

MONDO:0008641

seeAlso

https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome, https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy, https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy