Search Ontology:
Human Disease

brain small vessel disease 2

Term ID
DOID:0112314
Synonyms
  • BSVD2
  • porencephaly 2
Definition
A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. https://pubmed.ncbi.nlm.nih.gov/22209246/
References
Ontology
Human Disease   ( DOID:0112314 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models