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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:complete generalized lipodystrophy
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Accession:DOID:0080298 term browser browse the term
Definition:A lipodystrophy that is characterized by complete loss of adipose tissue. (DO)
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital generalized lipodystrophy		 CTD
ClinVar		 PMID:26467025 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: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:26467025 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 16929
    Nutritional and Metabolic Diseases 5216
      disease of metabolism 5216
        lipid metabolism disorder 926
          lipodystrophy 37
            complete generalized lipodystrophy 5
              acquired generalized lipodystrophy 0
              congenital generalized lipodystrophy + 5
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            Metabolic Skin Diseases 37
              lipodystrophy 37
                complete generalized lipodystrophy 5
                  acquired generalized lipodystrophy 0
                  congenital generalized lipodystrophy + 5
paths to the root