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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:Leukoaraiosis
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Accession:DOID:9001620 term browser browse the term
Definition:Non-specific white matter changes in the BRAIN, often seen after age 65. Changes include loss of AXONS; MYELIN pallor, GLIOSIS, loss of ependymal cells, and enlarged perivascular spaces. Leukoaraiosis is a risk factor for DEMENTIA and CEREBROVASCULAR DISORDERS.
Synonyms:exact_synonym: Leukoaraioses
 primary_id: MESH:D049292;   RDO:0007557
For additional species annotation, visit the Alliance of Genome Resources.



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Leukoaraiosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO DNA:SNPs: :rs17501010, rs893051,rs9290927(human) RGD PMID:25956626 RGD:11344876 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:25741868 PMID:34375587 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukoaraiosis ClinVar PMID:25356970 PMID:25741868 PMID:30252186 PMID:31116475 NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
JBrowse link
G Klc1 kinesin light chain 1 ISO associated with hypertension;DNA:polymorphism:intron:5836G>C(human)
associated with hypertension;DNA:polymorphisms:5'utr:185A>C,406C>T (human)
RGD PMID:17917076 PMID:17977659 RGD:5683912, RGD:5683914 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
JBrowse link
G Pmf1 polyamine-modulated factor 1 susceptibility ISO DNA:SNP: :rs2984613(human) RGD PMID:31396257 RGD:30296652 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
JBrowse link

Term paths to the root
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  disease 17251
    Pathological Conditions, Signs and Symptoms 10261
      Pathologic Processes 6709
        Leukoaraiosis 5
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