| Metadata | |
|---|---|
| ID | DOID:0111666 |
| Name | proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
| 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 |
| Xrefs |
MEDDRA:10071718 SNOMEDCT_US_2020_09_01:700242002 UMLS_CUI:C1856972 UMLS_CUI:C3203738 |
| Synonyms |
cerebral proliferative glomeruloid vasculopathy [EXACT] encephaloclastic proliferative vasculopathy [EXACT] EPV [EXACT] Fowler syndrome [EXACT] Fowler vasculopathy [EXACT] hydranencephaly, Fowler type [EXACT] hydrocephaly/hydranencephaly due to cerebral vasculopathy [EXACT] proliferative vasculopathy and hydranencephaly/hydrocephaly [EXACT] PVHH [EXACT] |
| Parent Relationships |
is_a syndrome |