Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/621268 http://purl.bioontology.org/ontology/OMIM/621268
Preferred Name	EXUDATIVE VITREORETINOPATHY 8
Synonyms	EVR8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EVR8
prefLabel	EXUDATIVE VITREORETINOPATHY 8
Gene Symbol	EVR8 STHAG7 LRP6 ADCAD2
Scope Statement	Caused by mutation in the low density lipoprotein receptor-related protein-6 gene (LRP6, 603507.0009) [MOLECULAR BASIS] Onset can occur as early as the first decade of life [MISCELLANEOUS] Visual impairment may be severe [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079880 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU008446 http://purl.bioontology.org/ontology/OMIM/MTHU079879 http://purl.bioontology.org/ontology/OMIM/MTHU079878
tui	T047
Gene Locus	12p13.3-p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	621268
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C6012752
OMIM Entry Type	3
OMIM MimType Value	pound

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