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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:familial partial lipodystrophy
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Accession:DOID:0050440 term browser browse the term
Definition:A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO)
Synonyms:exact_synonym: Koberling Dunnigan Syndrome;   familial partial lipodystrophies;   reverse partial lipodystrophies;   reverse partial lipodystrophy
 narrow_synonym: lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules
 primary_id: MESH:D052496
 xref: GARD:11962;   NCI:C84708;   OMIM:PS151660;   ORDO:98306


show annotations for term's descendants           Sort by:
familial partial lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 thymoma viral proto-oncogene 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		JBrowse link
G Cav1 caveolin 1, caveolae protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721 		JBrowse link
G Lipe lipase, hormone sensitive ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		JBrowse link
G Lmna lamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial
DNA:missense mutations:cds:multiple (human)		 CTD
ClinVar
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2526018 PMID:2733290 More... RGD:12791019 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Plin1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:79,370,912...79,382,652
Ensembl chr 7:79,369,966...79,382,651 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238		 CTD
MouseDO		 PMID:19793595 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360 		JBrowse link
G Zmpste24 zinc metallopeptidase, STE24 IAGP OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438 		JBrowse link
familial partial lipodystrophy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A ISO ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2526018 PMID:2733290 More... NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
familial partial lipodystrophy type 3 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: PPARG-related familial partial lipodystrophy ClinVar NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 		JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy OMIM
ClinVar		 PMID:9467001 PMID:9792554 PMID:10381354 PMID:10523018 PMID:10622252 More... NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360 		JBrowse link
familial partial lipodystrophy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: PLIN1-related condition | ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy OMIM
ClinVar		 PMID:18414213 PMID:21345103 PMID:25114292 PMID:25741868 PMID:28492532 More... NCBI chr 7:79,370,912...79,382,652
Ensembl chr 7:79,369,966...79,382,651 		JBrowse link
familial partial lipodystrophy type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS OMIM
ClinVar		 PMID:18654663 PMID:20049731 PMID:25741868 NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721 		JBrowse link
familial partial lipodystrophy type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin-like elastase family, member 2A ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar PMID:31358993 NCBI chr 4:141,542,265...141,553,316
Ensembl chr 4:141,542,273...141,553,471 		JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy OMIM
ClinVar		 PMID:24375490 PMID:24848981 PMID:25475467 PMID:25741868 PMID:27862896 More... NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		JBrowse link
Familial Partial Lipodystrophy Type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1, caveolae protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome		 OMIM
CTD
ClinVar		 PMID:11739396 PMID:18211975 PMID:18237401 PMID:25356970 PMID:25741868 More... NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
Familial Partial Lipodystrophy Type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2a adrenergic receptor, alpha 2a ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 8 OMIM
ClinVar		 PMID:27376152 NCBI chr19:54,033,690...54,037,413
Ensembl chr19:54,032,582...54,037,413 		JBrowse link
Familial Partial Lipodystrophy Type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plaat3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 9 OMIM
ClinVar		 NCBI chr19:7,534,824...7,565,914
Ensembl chr19:7,534,824...7,565,910 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        lipid metabolism disorder 1602
          lipodystrophy 202
            partial lipodystrophy 14
              familial partial lipodystrophy 12
                Familial Partial Lipodystrophy Type 7 1
                Familial Partial Lipodystrophy Type 8 1
                Familial Partial Lipodystrophy Type 9 1
                familial partial lipodystrophy type 1 0
                familial partial lipodystrophy type 2 1
                familial partial lipodystrophy type 3 2
                familial partial lipodystrophy type 4 1
                familial partial lipodystrophy type 5 1
                familial partial lipodystrophy type 6 2
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              Metabolic Skin Diseases 202
                lipodystrophy 202
                  partial lipodystrophy 14
                    familial partial lipodystrophy 12
                      Familial Partial Lipodystrophy Type 7 1
                      Familial Partial Lipodystrophy Type 8 1
                      Familial Partial Lipodystrophy Type 9 1
                      familial partial lipodystrophy type 1 0
                      familial partial lipodystrophy type 2 1
                      familial partial lipodystrophy type 3 2
                      familial partial lipodystrophy type 4 1
                      familial partial lipodystrophy type 5 1
                      familial partial lipodystrophy type 6 2
paths to the root