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ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive Leukoencephalopathy, with Ovarian Failure
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Accession:DOID:9006658 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure. (OMIM)
Synonyms:exact_synonym: LKENP
 primary_id: OMIM:615889
 alt_id: RDO:9001632
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Progressive Leukoencephalopathy, with Ovarian Failure term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      endocrine system disease 4934
        gonadal disease 868
          ovarian disease 658
            Progressive Leukoencephalopathy, with Ovarian Failure 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Urogenital Diseases 4031
        Female Urogenital Diseases and Pregnancy Complications 1819
          Female Urogenital Diseases 1524
            female reproductive system disease 1520
              Adnexal Diseases 664
                ovarian disease 658
                  Progressive Leukoencephalopathy, with Ovarian Failure 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.