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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;   progressive subcortical vascular encephalopathy
 primary_id: MESH:C563990
 alt_id: OMIM:600142



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease
OMIM
CTD
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 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 21155
    Pathological Conditions, Signs and Symptoms 13316
      Anatomical Pathological Conditions 2652
        alopecia 93
          Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            disease of mental health 8291
              cognitive disorder 2294
                dementia 872
                  vascular dementia 73
                    CADASIL 4
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
paths to the root