ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive Encephalopathy, with or without Lipodystrophy
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Accession:DOID:9007902 term browser browse the term
Definition:Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade.
Synonyms:exact_synonym: PELD
 primary_id: OMIM:615924;   RDO:9000327
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Progressive Encephalopathy, with or without Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        lipid metabolism disorder 721
          lipodystrophy 31
            Progressive Encephalopathy, with or without Lipodystrophy 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          skin disease 2253
            Metabolic Skin Diseases 31
              lipodystrophy 31
                Progressive Encephalopathy, with or without Lipodystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.