| Metadata | |
|---|---|
| ID | DOID:0061228 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061228 Copy |
| Name | autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 |
| Definition | A CADASIL characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade that has_material_basis_in homozygous or compound heterozygous mutation in the HTRA1 gene on chromosome 10q26. https://pubmed.ncbi.nlm.nih.gov/19387015/ |
| Xrefs | |
| Parent Relationships |
is_a CADASIL |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |