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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:Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
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Accession:DOID:9002417 term browser browse the term
Definition:A form of cerebral small vessel disease (cSVD) resulting in the onset of recurrent ischemic strokes in the thirties or forties. Affected individuals develop progressive, cognitive and motor impairment, consistent with progressive multi-infarct dementia. Brain imaging shows lacunar infarcts, often with a pontine predilection, as well as diffuse leukoencephalopathy affecting various brain regions.
Synonyms:exact_synonym: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE;   PADMAL
 primary_id: OMIM:618564
For additional species annotation, visit the Alliance of Genome Resources.


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Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT ClinVar
OMIM
PMID:906807 PMID:15221337 PMID:25741868 PMID:27666438 PMID:28369186 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      cardiovascular system disease 4395
        vascular disease 3322
          Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Leukoencephalopathies 485
              Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant 1
paths to the root