| Metadata | |
|---|---|
| ID | DOID:0061227 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061227 Copy |
| Name | autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 |
| Definition | A CADASIL characterized by the onset of neurologic symptoms in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutations in the NOTCH3 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/39191170/ |
| Xrefs | |
| Parent Relationships |
is_a CADASIL |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |