|OBO ID: DOID:0111666|
|Term Name:||proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome||Search Ontology:|
|Definition:||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 FLVCR2 on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/20206334|
|Ontology:||Human Disease (DOID:0111666)|
|is a type of:||
OTHER proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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