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DOID:0111666 - proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Disease 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 the FLVCR2 gene on chromosome 14q24.3.
Synonyms: EPV, Fowler syndrome, Fowler vasculopathy, PVHH, cerebral proliferative glomeruloid vasculopathy, encephaloclastic proliferative vasculopathy, hydranencephaly, Fowler type, hydrocephaly/hydranencephaly due to cerebral vasculopathy, proliferative vasculopathy and hydranencephaly/hydrocephaly,
Xenbase Genes
:
flvcr2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)