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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: 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Diseases of the Aged 1171
      dementia 618
        vascular dementia 39
          CADASIL 2
            CADASIL 1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              cognitive disorder 1843
                dementia 618
                  vascular dementia 39
                    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.