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DO Term : CADASIL 2 [DOID:0111036] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 616779,
  • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2,
  • ICD10CM:F01.1,
  • OMIM:616779
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