Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C566007 http://purl.bioontology.org/ontology/MESH/C566007
Preferred Name	Vasculopathy, Retinal, With Cerebral Leukodystrophy
Synonyms	Cerebroretinal Vasculopathy, Hereditary Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Cerebroretinal Vasculopathy, Hereditary Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
prefLabel	Vasculopathy, Retinal, With Cerebral Leukodystrophy
Scope Statement	mutations in TREX1
type	http://www.w3.org/2002/07/owl#Class
tui	T047
HM	D014652 D012164 D020279
SC	3
TERMUI	T807773 T807772 T807771
TH	OMIM (2013)
MMR	20121105
notation	C566007
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C1860518
MeSH Frequency	12
DSC	20121105
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D014652 http://purl.bioontology.org/ontology/MESH/D012164 http://purl.bioontology.org/ontology/MESH/D020279
MDA	20121105

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