| Metadata | |
|---|---|
| ID | DOID:0111036 |
| Name | CADASIL 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 |
| Xrefs | |
| Synonyms |
autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a CADASIL |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |