has material basis in germline mutation in
CAPN5
vitreoretinal degeneration
CAPN5-related vitreoretinopathy
https://github.com/monarch-initiative/mondo/issues/3898
https://github.com/monarch-initiative/mondo/issues/4259
retinitis proliferans
DOID:9719
EFO:1001129
SCTID:770791000
vitreoretinopathy, neovascular inflammatory
CAPN5 vitreoretinopathy
SCTID:232016005
MESH:D018630
MONDO:0100450
ADNIV
Orphanet:329211
UMLS:C4721549
vitreoretinopathy, neovascular inflammatory, autosomal dominant
ICD9:362.29
UMLS:C0242852
proliferative vitreoretinopathy
MedDRA:10057896
VRNI
An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
OMIM:193235
autosomal dominant neovascular inflammatory vitreoretinopathy
GARD:17497
proliferative vitreoretinopathy