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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: 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital generalized lipodystrophy
CTD
ClinVar
RGD
PMID:19187773 RGD:10047097 NCBI chr 3:9,416,842...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: Congenital generalized lipodystrophy | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes
CTD
ClinVar
PMID:11479539 PMID:18093937 PMID:23564749 PMID:25741868 PMID:26467025 More... NCBI chr 1:205,731,814...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 ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 OMIM
ClinVar
PMID:11967537 PMID:12765973 PMID:14557463 PMID:14715872 PMID:15181077 More... NCBI chr 3:9,416,842...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 ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes OMIM
ClinVar
PMID:11479539 PMID:11916958 PMID:12030893 PMID:15126564 PMID:18057387 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 OMIM
ClinVar
PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 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 ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 OMIM
ClinVar
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 18109
    physical disorder 4115
      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 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          skin disease 3762
            Metabolic Skin Diseases 38
              lipodystrophy 38
                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
paths to the root