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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: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.


show annotations for term's descendants           Sort by:
 
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: Berardinelli-Seip congenital lipodystrophy
CTD
ClinVar
PMID:19187773 RGD:10047097 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Lipodystrophy, Congenital Generalized
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
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 ClinVar
OMIM
PMID:11967537, PMID:12765973, PMID:14557463, PMID:14715872, PMID:15181077, PMID:15629135, PMID:18640396, PMID:19026526, PMID:21744063, PMID:22831748, PMID:24498038, PMID:25195639, PMID:25741868, PMID:26336158, PMID:27144933, PMID:28492532 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
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
OMIM
PMID:11479539, PMID:11916958, PMID:12030893, PMID:15126564, PMID:15181077, PMID:18057387, PMID:18093937, PMID:19041432, PMID:19226263, PMID:23564749, PMID:23963299, PMID:23989774, PMID:25588603, PMID:25741868, PMID:26282322, PMID:26467025, PMID:27144933, PMID:28492532 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 ISS OMIM:269700 MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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 OMIM:612526 OMIM
ClinVar
PMID:18211975, PMID:25356970, PMID:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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 null
ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 4
OMIM
ClinVar
PMID:12116229, PMID:18698612, PMID:19726876, PMID:20300641, PMID:20684003, PMID:25741868, PMID:28492532 NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          lipodystrophy 35
            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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Metabolic Skin Diseases 35
              lipodystrophy 35
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.