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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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.

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
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
OMIM
PMID:19387015, PMID:25741868, PMID:26063658, PMID:30981321, PMID:32101834, PMID:32581362 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Diseases of the Aged 1249
      dementia 670
        vascular dementia 40
          CADASIL 2
            CADASIL 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              cognitive disorder 1914
                dementia 670
                  vascular dementia 40
                    CADASIL 2
                      CADASIL 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.