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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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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
For additional species annotation, visit the Alliance of Genome Resources.

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CADASIL 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ClinVar
PMID:19387015 PMID:25741868 PMID:26063658 PMID:30981321 PMID:32101834 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Diseases of the Aged 1290
      dementia 712
        vascular dementia 51
          CADASIL 2
            CADASIL 2 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        central nervous system disease 10393
          brain disease 9755
            disease of mental health 7049
              cognitive disorder 1951
                dementia 712
                  vascular dementia 51
                    CADASIL 2
                      CADASIL 2 1
paths to the root