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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
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Accession:DOID:13945 term browser browse the term
Definition:A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. (DO)
Synonyms:exact_synonym: CADASILM;   CASIL;   cerebral arteriopathy with subcortical infarcts and leukoencephalopathy;   cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;   hereditary dementia, multi infarct type;   hereditary multi-infarct dementia
 primary_id: MESH:D046589
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CTD
ClinVar
PMID:10371548 PMID:11102981 PMID:15229130 PMID:15834039 PMID:20935329 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
CADASIL 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1
ClinVar Annotator: match by term: Recurrent subcortical infarcts
OMIM
ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
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:26467025 PMID:28492532 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 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 OMIM:600142
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by term: CARASIL
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: CARASIL syndrome
OMIM
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Diseases of the Aged 1292
      dementia 713
        vascular dementia 51
          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 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              cognitive disorder 1968
                dementia 713
                  vascular dementia 51
                    CADASIL 2
                      CADASIL 1 1
                      CADASIL 2 1
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
                      Familial Vascular Leukoencephalopathy 0
paths to the root