Search Ontology:
Human Disease

proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

Term ID
DOID:0111666
Synonyms
  • 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
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. https://www.ncbi.nlm.nih.gov/pubmed/20206334
References
Ontology
Human Disease   ( DOID:0111666 )
Relationships
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Genes Involved
Zebrafish Models