OBO ID: DOID:0112315
Term Name: brain small vessel disease 3 Search Ontology:
Synonyms:
  • BSVD3
Definition: A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in COLGALT1 on chromosome 19p13.11. https://pubmed.ncbi.nlm.nih.gov/30412317/
References:
Ontology: Human Disease   (DOID:0112315)
OTHER brain small vessel disease 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COLGALT1 Brain small vessel disease 3 618360
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None