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: CADASIL1;   cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1;   cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy type 1
 primary_id: OMIM:125310
 alt_id: RDO:9002951
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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

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Path 1
Term Annotations click to browse term
  disease 14823
    Diseases of the Aged 1152
      dementia 605
        vascular dementia 38
          CADASIL 2
            CADASIL 1 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              cognitive disorder 1890
                dementia 605
                  vascular dementia 38
                    CADASIL 2
                      CADASIL 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.