OBO ID: DOID:0112314
Term Name: brain small vessel disease 2 Search Ontology:
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 brain small vessel disease 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL4A2 Brain small vessel disease 2 614483
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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