Visualize Submit Comment
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

MIM:621295

Parent Relationships

is_a CADASIL

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker