Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene.
Drenser
Kimberly A
KA
Trese
Michael T
MT
D000015:Abnormalities, Multiple / Q000209:etiology; D016543:Central Nervous System Neoplasms / Q000235:genetics*; D005124:Eye Abnormalities / Q000209:etiology; D005312:Fetal Blood; D005910:Glioma / Q000235:genetics*; D006801:Humans; D006965:Hyperplasia; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D007908:Lens, Crystalline / Q000098:blood supply; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D009154:Mutation; D010024:Osteoporosis / Q000235:genetics*; D013577:Syndrome; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics*; D014822:Vitreous Body / Q000002:abnormalities / Q000098:blood supply
D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5