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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:Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Accession:DOID:9001147 term browser browse the term
Synonyms:exact_synonym: CARASIL;   CARASIL SYNDROME;   Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease;   Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension;   HTRA1-RELATED CEREBRAL SMALL VESSEL DISEASE;   MAEDA Syndrome;   Nemoto Disease;   Subcortical Vascular Encephalopathy, Progressive
 primary_id: MESH:C563990
 alt_id: OMIM:600142
For additional species annotation, visit the Alliance of Genome Resources.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Anatomical Pathological Conditions 2002
        alopecia 83
          Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            cerebrovascular disease 828
              intracranial arterial disease 261
                intracranial arteriosclerosis 51
                  vascular dementia 51
                    CADASIL 2
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
paths to the root