Search Ontology:
Human Disease

CADASIL 2

Term ID
DOID:0111036
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 )
Relationships
is a type of
inverse disjoint_from
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Genes Involved
Zebrafish Models