Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/143200 http://purl.bioontology.org/ontology/OMIM/143200
Preferred Name	WAGNER VITREORETINOPATHY
Synonyms	ERVR HYALOIDEORETINAL DEGENERATION OF WAGNER WAGNER VITREORETINAL DEGENERATION EROSIVE VITREORETINOPATHY WGVRP WAGNER SYNDROME 1 WGN1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ERVR HYALOIDEORETINAL DEGENERATION OF WAGNER WAGNER VITREORETINAL DEGENERATION EROSIVE VITREORETINOPATHY WGVRP WAGNER SYNDROME 1 WGN1 See more See less
prefLabel	WAGNER VITREORETINOPATHY
Gene Symbol	CSPG2 ERVR WGN VCAN WGN1
notation	143200
Scope Statement	Caused by mutation in the chondroitin sulfate proteoglycan-2 gene (CSPG2, 118661.0001) [MOLECULAR BASIS] Progressive clinical course with onset in childhood [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002188 http://purl.bioontology.org/ontology/OMIM/MTHU017823 http://purl.bioontology.org/ontology/OMIM/MTHU017820 http://purl.bioontology.org/ontology/OMIM/MTHU018963 http://purl.bioontology.org/ontology/OMIM/MTHU017814 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU031018 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU017819 http://purl.bioontology.org/ontology/OMIM/MTHU031017 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU067197 http://purl.bioontology.org/ontology/OMIM/MTHU017821 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	5q12-q14
tui	T047
cui	C1840452

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