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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:Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2
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Accession:DOID:9003895 term browser browse the term
Definition:A recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification.
Synonyms:exact_synonym: PLOSL2
 primary_id: MIM:618193


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      bone development disease 2374
        osteochondrodysplasia 870
          Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly 2
            Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            disease of mental health 8428
              cognitive disorder 2317
                dementia 876
                  Alzheimer's disease 501
                    Presenile and Senile Dementia 6
                      Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 1
paths to the root