Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:partial lipodystrophy
go back to main search page
Accession:DOID:0080299 term browser browse the term
Definition:A lipodystrophy that is characterized by partial loss of adipose tissue. (DO)
Synonyms:exact_synonym: APLD;   APLD, SUSCEPTIBILITY TO;   Barraquer-Simons Syndrome;   LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO;   Lipodystrophy, Cephalothoracic Type;   Lipodystrophy, Partial, Acquired;   progressive partial lipodystrophy
 primary_id: MESH:C562448
 alt_id: OMIM:608709
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
partial lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 susceptibility ISO ClinVar Annotator: match by OMIM:608709
ClinVar Annotator: match by term: Acquired partial lipodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16826530, PMID:22768673, PMID:22995991, PMID:25741868, PMID:26467025, PMID:27535533, PMID:28492532 NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
JBrowse link
familial partial lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
G Lipe lipase E, hormone sensitive type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lipodystrophy, reverse partial
ClinVar Annotator: match by term: Familial partial lipodystrophy
ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:10441578, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10814726, PMID:10939567, PMID:10999791, PMID:11342468, PMID:11344241, PMID:11503164, PMID:12015247, PMID:12628721, PMID:12629077, PMID:12788894, PMID:12844477, PMID:12920062, PMID:12927431, PMID:14510863, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14749366, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15531479, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16174718, PMID:16241930, PMID:16278265, PMID:16440304, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17274801, PMID:17377071, PMID:18256394, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18611980, PMID:18795223, PMID:18926329, PMID:19220582, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19622949, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19793595, PMID:19859838, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20625965, PMID:20848652, PMID:20980393, PMID:21520333, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23328570, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25214167, PMID:25524705, PMID:25637381, PMID:25741868, PMID:25885670, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:26752647, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:28874324, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30165862, PMID:30311386, PMID:30420677, PMID:10655060 RGD:12791019 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Plin1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:141,458,907...141,470,927
Ensembl chr 1:141,458,181...141,471,010
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISS OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
familial partial lipodystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lipodystrophy, familial, of limbs and lower trunk
ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan
OMIM
ClinVar
PMID:2007407, PMID:10441578, PMID:10587585, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10810087, PMID:10814726, PMID:10868844, PMID:10939567, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11136544, PMID:11342468, PMID:11792809, PMID:12015247, PMID:12628721, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14607793, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16181372, PMID:16278265, PMID:16364671, PMID:16415042, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17377071, PMID:18256394, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18611980, PMID:18728124, PMID:18795223, PMID:18926329, PMID:19011997, PMID:19201734, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19859838, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20625965, PMID:20848652, PMID:21883346, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22464770, PMID:22700598, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24721642, PMID:24846508, PMID:25163546, PMID:25214167, PMID:25351510, PMID:25367549, PMID:25637381, PMID:25741868, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27841971, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28663758, PMID:28785654, PMID:28874324, PMID:29078011, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30165862, PMID:30311386, PMID:30420677 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
familial partial lipodystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS ClinVar 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 ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 3
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
ClinVar
OMIM
PMID:9467001, PMID:9792554, PMID:10523018, PMID:10622252, PMID:10851250, PMID:11788685, PMID:12453919, PMID:14671186, PMID:15254591, PMID:17299075, PMID:17356052, PMID:22461176, PMID:25157153, PMID:25741868, PMID:28492532 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
familial partial lipodystrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 4
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
ClinVar
OMIM
PMID:21345103, PMID:25741868, PMID:28492532 NCBI chr 1:141,458,907...141,470,927
Ensembl chr 1:141,458,181...141,471,010
JBrowse link
familial partial lipodystrophy type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by OMIM:615238 OMIM
ClinVar
PMID:18654663, PMID:20049731 NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
familial partial lipodystrophy type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar
OMIM
PMID:25741868 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM
ClinVar
PMID:11739396, PMID:18237401, PMID:25356970, PMID:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          lipodystrophy 35
            partial lipodystrophy 11
              familial partial lipodystrophy + 10
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
                partial lipodystrophy 11
                  familial partial lipodystrophy + 10
paths to the root

NHLBI Logo

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