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Metadata
ID DOID:0111035
Name CADASIL 1
Definition A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
https://www.ncbi.nlm.nih.gov/pubmed/10476042, https://www.ncbi.nlm.nih.gov/pubmed/8878478
Xrefs

ICD10CM:F01.1

MIM:125310

Synonyms

autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 [EXACT]

Parent Relationships

is_a CADASIL

is_a autosomal dominant disease

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