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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: MIM:618564


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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 ISO ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant ClinVar
OMIM		 PMID:906807 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 More... NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant ClinVar PMID:25741868 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16175
    disease of anatomical entity 15788
      cardiovascular system disease 4672
        vascular disease 3250
          Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant 2
Path 2
Term Annotations click to browse term
  disease 16175
    disease of anatomical entity 15788
      nervous system disease 13691
        central nervous system disease 12274
          brain disease 11522
            Leukoencephalopathies 531
              Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant 2
paths to the root