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
Accession: DOID:0080298
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 .
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 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brunzell syndrome | 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 PMID:28492532 More...
NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 PMID:15629135 PMID:18414213 PMID:18640396 PMID:19026526 PMID:21744063 PMID:22831748 PMID:24498038 PMID:25195639 PMID:25741868 PMID:26072926 PMID:26336158 PMID:27144933 PMID:28492532 PMID:32117065 More...
NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
G
Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 | ClinVar Annotator: match by term: Congenital lipoatrophic diabetes
OMIM ClinVar
PMID:9536098 PMID:11479539 PMID:11916958 PMID:12030893 PMID:12362029 PMID:14557463 PMID:15126564 PMID:17576681 PMID:18057387 PMID:18093937 PMID:19041432 PMID:19226263 PMID:19762912 PMID:20301391 PMID:21126715 PMID:23564749 PMID:23963299 PMID:23989774 PMID:25588603 PMID:25741868 PMID:26072926 PMID:26467025 PMID:27144933 PMID:27612026 PMID:27632409 PMID:28166811 PMID:28492532 PMID:28916377 PMID:29478747 PMID:30903322 PMID:31770241 PMID:32041611 PMID:32792356 More...
NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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
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
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 PMID:28492532 PMID:31727138 PMID:33264630 More...
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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