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ONTOLOGY REPORT - ANNOTATIONS


Term:CADASIL 1
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Accession:DOID:0111035 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CADASIL;   CADASIL1;   CASIL;   DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;   autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1;   cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
 narrow_synonym: RECURRENT SUBCORTICAL INFARCTS
 primary_id: OMIM:125310
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CADASIL 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15849
    Diseases of the Aged 1210
      dementia 652
        vascular dementia 40
          CADASIL 2
            CADASIL 1 1
Path 2
Term Annotations click to browse term
  disease 15849
    disease of anatomical entity 15241
      nervous system disease 10711
        central nervous system disease 8827
          brain disease 8116
            disease of mental health 5750
              cognitive disorder 1880
                dementia 652
                  vascular dementia 40
                    CADASIL 2
                      CADASIL 1 1
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