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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS ClinVar NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 3
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
ClinVar
OMIM
PMID:9467001, PMID:9792554, PMID:10523018, PMID:10622252, PMID:10851250, PMID:11788685, PMID:12453919, PMID:14671186, PMID:15254591, PMID:17299075, PMID:17356052, PMID:22461176, PMID:25157153, PMID:25741868, PMID:28492532 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        lipid metabolism disorder 900
          lipodystrophy 35
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                familial partial lipodystrophy type 3 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Metabolic Skin Diseases 35
              lipodystrophy 35
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    familial partial lipodystrophy type 3 2
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.