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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;   ICD10CM:I67.850;   NCI:C84606;   OMIM:PS125310;   ORDO:136
For additional species annotation, visit the Alliance of Genome Resources.


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CADASIL term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link NW_004936486 11,271,130 11,317,271 RGD:9068941
G Notch3 notch receptor 3 JBrowse link NW_004936596 5,265,984 5,301,430 RGD:9068941
CADASIL 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link NW_004936596 5,265,984 5,301,430 RGD:7240710
CADASIL 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link NW_004936486 11,271,130 11,317,271 RGD:7240710
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 NW_004936486 11,271,130 11,317,271 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Diseases of the Aged 929
      dementia 593
        vascular dementia 37
          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 11879
    disease of anatomical entity 11444
      nervous system disease 9331
        central nervous system disease 7822
          brain disease 7189
            cerebrovascular disease 733
              intracranial arterial disease 225
                intracranial arteriosclerosis 37
                  vascular dementia 37
                    CADASIL 2
                      CADASIL 1 1
                      CADASIL 2 1
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
                      Familial Vascular Leukoencephalopathy 0
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