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ONTOLOGY REPORT - ANNOTATIONS


Term:CADASIL 2
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Accession:DOID:0111036 term browser browse the term
Definition:A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: CADASIL2;   autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2
 primary_id: OMIM:616779
 xref: ICD10CM:F01.1
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    Diseases of the Aged 1224
      dementia 663
        vascular dementia 40
          CADASIL 2
            CADASIL 2 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        central nervous system disease 8856
          brain disease 8144
            disease of mental health 5768
              cognitive disorder 1896
                dementia 663
                  vascular dementia 40
                    CADASIL 2
                      CADASIL 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.