| | MeSH | Disease Ontology |
| Disease ID: | D000092342 | DOID:0111666 |
| Disease Name: | Polypoidal Choroidal Vasculopathy | proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
| Category: | MeSH | Disease Ontology |
| Type: | Eye Diseases//Pathological Conditions, Signs and Symptoms | genetic disease//syndrome |
| Define: | A CHOROID neovascularization characterized by serosanguineous retinal pigment epithelial detachment and leakage of serous exudate sometimes associated with aneurysmal polypoidal lesions. | A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. |
| Alias: | Idiopathic Polypoidal Choroidal Vasculopathy//Polypoidal CNV//Polypoidal Choroidal Neovascularization | cerebral proliferative glomeruloid vasculopathy//encephaloclastic proliferative vasculopathy//EPV//Fowler syndrome//Fowler vasculopathy//hydranencephaly, Fowler type//hydrocephaly/hydranencephaly due to cerebral vasculopathy//proliferative vasculopathy and hydranencephaly/hydrocephaly//PVHH |