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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital generalized lipodystrophy
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Accession:DOID:0050585 term browser browse the term
Definition:Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
Synonyms:exact_synonym: Berardinelli Seip congenital lipodystrophy;   Berardinelli Seip syndrome;   Berardinelli syndrome;   Brunzell Syndrome (with Bone Cysts);   Brunzell syndrome;   Seip syndrome;   congenital generalized lipodystrophies;   congenital lipoatrophic diabetes;   generalized lipodystrophies;   generalized lipodystrophy;   total lipodystrophies;   total lipodystrophy
 primary_id: MESH:D052497
 alt_id: RDO:0004458
 xref: GARD:13388;   OMIM:PS608594
For additional species annotation, visit the Alliance of Genome Resources.


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congenital generalized lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:10047097
RGD:8554872
RGD:11554173
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:11554173
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:8554872
RGD:7240710
congenital generalized lipodystrophy type 2 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
RGD:7240710
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:13592920
congenital generalized lipodystrophy type 3 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
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Skin and Connective Tissue Diseases 4230
        connective tissue disease 2779
          lipodystrophy 31
            complete generalized lipodystrophy 5
              congenital generalized lipodystrophy 5
                Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 0
                congenital generalized lipodystrophy type 1 1
                congenital generalized lipodystrophy type 2 2
                congenital generalized lipodystrophy type 3 1
                congenital generalized lipodystrophy type 4 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          skin disease 2467
            Metabolic Skin Diseases 31
              lipodystrophy 31
                complete generalized lipodystrophy 5
                  congenital generalized lipodystrophy 5
                    Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 0
                    congenital generalized lipodystrophy type 1 1
                    congenital generalized lipodystrophy type 2 2
                    congenital generalized lipodystrophy type 3 1
                    congenital generalized lipodystrophy type 4 1
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