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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:congenital generalized lipodystrophy
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Accession:DOID:0050585 term browser browse the term
Definition:A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. (DO)
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
 xref: EFO:1000681;   GARD:13388;   OMIM:PS608594


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congenital generalized lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:19226263 PMID:24498038 PMID:25741868 PMID:19187773 RGD:10047097 NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Berardinelli syndrome | ClinVar Annotator: match by term: Berardinelli-Seip congenital lipodystrophy | ClinVar Annotator: match by term: Congenital generalized lipodystrophy		 CTD
ClinVar		 PMID:1674639 PMID:5964029 PMID:11479539 PMID:12030893 PMID:12362029 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO
ISS		 OMIM:608594
ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1		 OMIM
MouseDO
ClinVar		 PMID:11967537 PMID:12765973 PMID:14557463 PMID:14715872 PMID:15181077 More... NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO
ISS		 ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2
OMIM:269700		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11479539 PMID:11916958 PMID:12030893 PMID:12362029 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Gng3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 ClinVar PMID:25741868 NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:269700 MouseDO NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 PMID:28492532 More... NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO
ISS		 ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4
CTD Direct Evidence: marker/mechanism
OMIM:613327		 OMIM
ClinVar
CTD
MouseDO		 PMID:12116229 PMID:18698612 PMID:19726876 PMID:20300641 PMID:20684003 More... NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    physical disorder 4895
      congenital generalized lipodystrophy 6
        Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 0
        congenital generalized lipodystrophy type 1 1
        congenital generalized lipodystrophy type 2 3
        congenital generalized lipodystrophy type 3 1
        congenital generalized lipodystrophy type 4 1
Path 2
Term Annotations click to browse term
  disease 21122
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10746
        Neurologic Manifestations 9984
          sensory system disease 6884
            skin disease 3904
              Metabolic Skin Diseases 195
                lipodystrophy 195
                  complete generalized lipodystrophy 6
                    congenital generalized lipodystrophy 6
                      Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 0
                      congenital generalized lipodystrophy type 1 1
                      congenital generalized lipodystrophy type 2 3
                      congenital generalized lipodystrophy type 3 1
                      congenital generalized lipodystrophy type 4 1
paths to the root