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Disease Ontology Browser
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (DOID:0111666)
Alliance: disease page
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
Alt IDs: OMIM:225790, MESH:C565593, ORDO:221126, UMLS_CUI:C1856972
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
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