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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: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: MIM:615924;   RDO:9000327


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Progressive Encephalopathy, with or without Lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy OMIM
ClinVar		 PMID:11479539 PMID:16735770 PMID:18093937 PMID:18690553 PMID:19226263 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Nutritional and Metabolic Diseases 8523
      disease of metabolism 8523
        lipid metabolism disorder 1906
          lipodystrophy 201
            Progressive Encephalopathy, with or without Lipodystrophy 1
Path 2
Term Annotations click to browse term
  disease 19051
    Pathological Conditions, Signs and Symptoms 13531
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7253
            skin disease 4197
              Metabolic Skin Diseases 201
                lipodystrophy 201
                  Progressive Encephalopathy, with or without Lipodystrophy 1
paths to the root