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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:CADASIL2
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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: CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 2;   CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2;   HTRA1-RELATED AUTOSOMAL DOMINANT CEREBRAL SMALL VESSEL DISEASE;   autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2
 primary_id: OMIM:616779
 xref: ICD10CM:F01.1

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CADASIL2 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 Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease OMIM
ClinVar		 PMID:19387015 PMID:25712943 PMID:25741868 PMID:26063658 PMID:26467025 More... NCBI chrNW_004936486:11,271,130...11,317,271
Ensembl chrNW_004936486:11,271,130...11,316,739 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 ClinVar PMID:28492532 NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Diseases of the Aged 1181
      dementia 801
        vascular dementia 70
          CADASIL 5
            CADASIL2 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              cognitive disorder 1996
                dementia 801
                  vascular dementia 70
                    CADASIL 5
                      CADASIL2 2
paths to the root