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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:hypomyelinating leukoencephalopathy
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Accession:DOID:0050987 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. (DO)


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            Leukoencephalopathies 604
              hypomyelinating leukoencephalopathy 0
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            movement disease 2599
              Dyskinesias 2211
                Ataxia 966
                  Spinocerebellar Ataxias 554
                    cerebellar ataxia 478
                      autosomal dominant cerebellar ataxia 89
                        hypomyelinating leukoencephalopathy 0
paths to the root