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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;   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 ARMS2 age-related maculopathy susceptibility 2 ISO ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ClinVar PMID:18316707, PMID:26467025 NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO OMIM NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12751
    Pathological Conditions, Signs and Symptoms 7531
      Anatomical Pathological Conditions 1332
        alopecia 91
          Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
Path 2
Term Annotations click to browse term
  disease 12751
    disease of anatomical entity 12282
      nervous system disease 10028
        central nervous system disease 8476
          brain disease 7850
            disease of mental health 5735
              cognitive disorder 1728
                dementia 619
                  vascular dementia 39
                    CADASIL 3
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
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.