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ONTOLOGY REPORT - ANNOTATIONS


Term:CADASIL
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Accession:DOID:13945 term browser browse the term
Definition:A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)
Synonyms:exact_synonym: CADASILM;   CASIL;   Dementia, Hereditary Multi Infarct Type;   cerebral arteriopathy with subcortical infarcts and leukoencephalopathy;   cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;   hereditary multi-infarct dementia
 primary_id: MESH:D046589
 alt_id: RDO:0000072
 xref: GARD:1049;   OMIM:PS125310;   ORDO:136
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CADASIL term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:11554173
G Notch3 notch 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
RGD:11554173
CADASIL 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch 3 JBrowse link 7 14,138,495 14,189,688 RGD:7240710
RGD:8554872
CADASIL 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:8554872
RGD:7240710
RGD:13592920
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Diseases of the Aged 1150
      dementia 603
        vascular dementia 38
          CADASIL 2
            CADASIL 1 1
            CADASIL 2 1
            Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
            Familial Vascular Leukoencephalopathy 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            cerebrovascular disease 787
              intracranial arterial disease 229
                intracranial arteriosclerosis 38
                  vascular dementia 38
                    CADASIL 2
                      CADASIL 1 1
                      CADASIL 2 1
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
                      Familial Vascular Leukoencephalopathy 0
paths to the root