OBO ID: DOID:0111036
Term Name: CADASIL 2 Search Ontology:
Synonyms:
  • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2
Definition: A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. https://www.ncbi.nlm.nih.gov/pubmed/26063658
References:
Ontology: Human Disease   ( DOID:0111036 )
OTHER CADASIL 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HTRA1 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None