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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:familial partial lipodystrophy type 3
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Accession:DOID:0070204 term browser browse the term
Definition:A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: FPLD3;   PPARG-related FPLD;   PPARG-related familial partial lipodystrophy;   familial partial lipodystrophy associated with PPARG mutations
 primary_id: OMIM:604367
 xref: GARD:12600;   ORDO:79083


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familial partial lipodystrophy type 3 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: PPARG-related familial partial lipodystrophy ClinVar NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy OMIM
ClinVar		 PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 More... NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        lipid metabolism disorder 1741
          lipodystrophy 200
            partial lipodystrophy 14
              familial partial lipodystrophy 12
                familial partial lipodystrophy type 3 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  partial lipodystrophy 14
                    familial partial lipodystrophy 12
                      familial partial lipodystrophy type 3 2
paths to the root