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Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy - Ontology Report - Rat Genome Database

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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: MIM:600142
 xref: NCI:C202018

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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 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
ClinVar		 PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chrNW_004936486:11,271,130...11,317,271
Ensembl chrNW_004936486:11,271,130...11,316,739 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: CARASIL ClinVar PMID:9536098 PMID:15737703 PMID:17576681 PMID:20142466 PMID:24500651 More... NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:27148565 NCBI chrNW_004936531:9,129,024...9,134,916
Ensembl chrNW_004936531:9,129,715...9,130,515 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    Pathological Conditions, Signs and Symptoms 11556
      Anatomical Pathological Conditions 2541
        alopecia 80
          Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 3
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        central nervous system disease 11282
          brain disease 10591
            disease of mental health 7615
              cognitive disorder 2009
                dementia 806
                  vascular dementia 72
                    CADASIL 6
                      Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 3
paths to the root