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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: OMIM:615924;   RDO:9000327
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:615924
ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy
ClinVar
OMIM
PMID:11479539, PMID:18093937, PMID:23564749, PMID:26282322, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          lipodystrophy 35
            Progressive Encephalopathy, with or without Lipodystrophy 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Metabolic Skin Diseases 35
              lipodystrophy 35
                Progressive Encephalopathy, with or without Lipodystrophy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.