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ONTOLOGY REPORT - ANNOTATIONS


Term:MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, 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: Autosomal dominant pontine microangiopathy and leukoencephalopathy;   DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE;   PADMAL
 primary_id: OMIM:618564
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MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      cardiovascular system disease 4274
        vascular disease 3304
          MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            Leukoencephalopathies 431
              MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.