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General Information
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| Term |
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
ID (Ontology) |
DOID:0111666 (Human Disease) |
| 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. |
| Also Known As |
"cerebral proliferative glomeruloid vasculopathy" ; "encephaloclastic proliferative vasculopathy" ; "EPV" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 1 | 1 | for disease ribbon | proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 1 | -- | model of | proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 1 | -- |
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Relationships