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ONTOLOGY REPORT - ANNOTATIONS


Term:familial partial lipodystrophy
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Accession:DOID:0050440 term browser browse the term
Definition:Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
Synonyms:exact_synonym: Koberling Dunnigan Syndrome;   familial partial lipodystrophies;   reverse partial lipodystrophies;   reverse partial lipodystrophy
 narrow_synonym: lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules
 primary_id: MESH:D052496
 xref: GARD:11962;   NCI:C84708;   OMIM:PS151660;   ORDO:98306
For additional species annotation, visit the Alliance of Genome Resources.


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familial partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt2 AKT serine/threonine kinase 2 JBrowse link 1 84,400,939 84,451,223 RGD:11554173
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:11554173
G Cidec cell death-inducing DFFA-like effector c JBrowse link 4 145,377,482 145,390,497 RGD:11554173
G Lipe lipase E, hormone sensitive type JBrowse link 1 82,248,031 82,266,727 RGD:11554173
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
RGD:8554872
RGD:12791019
G Plin1 perilipin 1 JBrowse link 1 141,458,907 141,470,927 RGD:11554173
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:11554173
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:13592920
familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
familial partial lipodystrophy type 3 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
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plin1 perilipin 1 JBrowse link 1 141,458,907 141,470,927 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cidec cell death-inducing DFFA-like effector c JBrowse link 4 145,377,482 145,390,497 RGD:7240710
RGD:8554872
familial partial lipodystrophy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cela2a chymotrypsin like elastase 2A JBrowse link 5 160,374,031 160,383,782 RGD:8554872
G Lipe lipase E, hormone sensitive type JBrowse link 1 82,248,031 82,266,727 RGD:8554872
RGD:7240710
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Nutritional and Metabolic Diseases 4644
      disease of metabolism 4644
        lipid metabolism disorder 887
          lipodystrophy 35
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
                familial partial lipodystrophy type 1 0
                familial partial lipodystrophy type 2 1
                familial partial lipodystrophy type 3 2
                familial partial lipodystrophy type 4 1
                familial partial lipodystrophy type 5 1
                familial partial lipodystrophy type 6 2
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          skin disease 2652
            Metabolic Skin Diseases 35
              lipodystrophy 35
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
                    familial partial lipodystrophy type 1 0
                    familial partial lipodystrophy type 2 1
                    familial partial lipodystrophy type 3 2
                    familial partial lipodystrophy type 4 1
                    familial partial lipodystrophy type 5 1
                    familial partial lipodystrophy type 6 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.