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retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0111567 (MONDO:equivalentTo)
  • Orphanet:247691 (OMIM:192315)
  • UMLS:C1860518 (MONDO:equivalentTo)
  • SCTID:721141004 (MONDO:equivalentObsolete)
  • SCTID:720854004 (MONDO:equivalentTo)
  • NORD:1910 (MONDO:NORD)
  • GARD:1217 (MONDO:GARD)
  • MEDGEN:348124 (MONDO:equivalentTo)
  • OMIM:192315 (Orphanet:247691/e)
  • icd11.foundation:554838792 (https://orcid.org/0000-0001-5208-3432)
  • MESH:C566007 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

abbreviation
HVR [ GARD:0010535 ]

abbreviation
ADRVCL [ GARD:0001217 ]

abbreviation
RVCL [ https://omim.org/entry/192315 Orphanet:247691 GARD:0001217 MONDO:Lexical ]

abbreviation
CRV [ GARD:0001217 ]

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Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1

exactMatch

http://identifiers.org/medgen/348124

https://omim.org/entry/192315

http://linkedlifedata.com/resource/umls/id/C1860518

http://identifiers.org/mesh/C566007

http://www.orpha.net/ORDO/Orphanet_247691

http://purl.obolibrary.org/obo/DOID_0111567

http://identifiers.org/snomedct/720854004

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019723

has related synonym

retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena

retinal vasculopathy with cerebral leukodystrophy

grand-Kaine-fulling syndrome

cerebroretinal vasculopathy

autosomal dominant retinal vasculopathy with cerebral leukodystrophy

HVR

CRV

grand Kaine fulling syndrome

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

term tracker item

https://github.com/monarch-initiative/mondo/issues/6878

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

https://github.com/monarch-initiative/mondo/issues/7365