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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:Metabolic Skin Diseases
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Accession:DOID:9002435 term browser browse the term
Definition:Diseases of the skin associated with underlying metabolic disorders.
Synonyms:exact_synonym: Metabolic Skin Disease
 primary_id: MESH:D012875;   RDO:0006013
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 Qualifiers 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 Qualifiers 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 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: 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 Qualifiers 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 4
ClinVar Annotator: match by null
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
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: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
ClinVar Annotator: match by term: Familial partial lipodystrophy
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10999791 PMID:11078466 PMID:11342468 PMID:11344241 PMID:11503164 PMID:12628721 PMID:12629077 PMID:12844477 PMID:12920062 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15475483 PMID:15531479 PMID:15998779 PMID:16174718 PMID:16241930 PMID:16278265 PMID:16440304 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17377071 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18795223 PMID:18926329 PMID:19169477 PMID:19220582 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19793595 PMID:19859838 PMID:20130076 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21520333 PMID:21883346 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22700598 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25163546 PMID:25214167 PMID:25351510 PMID:25367549 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:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28874324 PMID:29040816 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29438482 PMID:29693488 PMID:29791652 PMID:30165862 PMID:30420677 PMID:31525256 PMID:32004434, 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: Partial lipodystrophy, Dunnigan
ClinVar Annotator: match by term: Lipodystrophy, familial, of limbs and lower trunk
OMIM
ClinVar
PMID:12628721 PMID:12920062 PMID:15060110 PMID:15140538 PMID:15475483 PMID:15998779 PMID:16278265 PMID:16809772 PMID:17250669 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:18926329 PMID:19169477 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:21883346 PMID:22224630 PMID:22266370 PMID:22464770 PMID:22700598 PMID:22918509 PMID:23183350 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:27532257 PMID:27585670 PMID:27707468 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:30420677 PMID:31525256 PMID:32004434 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
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:12876073 RGD:8694470 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) RGD PMID:20331838, PMID:15353983 RGD:8655915, RGD:8655934 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
JMP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psma3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr 6:93,423,029...93,444,223
Ensembl chr 6:93,423,002...93,444,240
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
OMIM
ClinVar
PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21852578 PMID:21881205 PMID:21953331 PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr20:3,990,809...3,993,772
Ensembl chr20:3,990,613...3,993,769
JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar
PMID:19610118 PMID:25620207 PMID:25741868 NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
lipoatrophic diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:liver,serum: RGD PMID:19277603 RGD:8657358
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial partial lipodystrophy 2
ClinVar Annotator: match by term: Lipoatrophic diabetes
ClinVar PMID:2007407 PMID:2270059 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11136544 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11503164 PMID:11792809 PMID:11792811 PMID:12015247 PMID:12075506 PMID:12196663 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12702809 PMID:12920062 PMID:12927424 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14684700 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15219508 PMID:15475483 PMID:15531479 PMID:15998779 PMID:16174718 PMID:16181372 PMID:16218190 PMID:16278265 PMID:16364671 PMID:16415042 PMID:16440304 PMID:16636128 PMID:16809772 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17377071 PMID:17711925 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18604166 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19084400 PMID:19169477 PMID:19201734 PMID:19220582 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19859838 PMID:19933576 PMID:20041886 PMID:20074070 PMID:20130076 PMID:20160190 PMID:20376791 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21346069 PMID:21520333 PMID:21883346 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22700598 PMID:22918509 PMID:23183350 PMID:23243001 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23497705 PMID:23783098 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24055113 PMID:24080738 PMID:24375749 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25163546 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25351510 PMID:25367549 PMID:25524705 PMID:25637381 PMID:25741868 PMID:25819867 PMID:25823658 PMID:25885670 PMID:26165385 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26662654 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28874324 PMID:29040816 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29438482 PMID:29693488 PMID:29791652 PMID:30012837 PMID:30165862 PMID:30420677 PMID:30488537 PMID:31525256 PMID:32004434, PMID:12196663 RGD:1580516 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 susceptibility ISO RGD PMID:11967537 RGD:1598785 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 CGL2, OMIM:269700, DNA:frameshift:exon
CTD Direct Evidence: marker/mechanism
CTD PMID:25462787, PMID:11479539 RGD:1600601 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:16697654 RGD:1581157 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ebf1 EBF transcription factor 1 ISS OMIM:608709 MouseDO NCBI chr10:23,654,849...24,051,627
Ensembl chr10:23,661,013...24,050,209
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:24011075 RGD:10401088 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.R482Q, p.R482W (human)
ClinVar Annotator: match by term: Lipodystrophy
ClinVar PMID:12920062 PMID:15060110 PMID:19095983 PMID:19169477 PMID:19589617 PMID:22700598 PMID:22918509 PMID:23183350 PMID:23666920 PMID:24033266 PMID:25327215 PMID:25741868 PMID:26332594 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29047356 PMID:29791652 PMID:30123186, PMID:12524233 RGD:2306123 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lpin1 lipin 1 ISS OMIM:608709 MouseDO NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Parp2 poly (ADP-ribose) polymerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21417348 NCBI chr15:27,739,416...27,749,650
Ensembl chr15:27,739,251...27,749,648
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO FPLD3,OMIM:604367;DNA:point mutation:exon:P467L
ClinVar Annotator: match by term: Lipodystrophy
ClinVar PMID:10622252 PMID:15254591 PMID:22461176 PMID:25157153, PMID:10622252 RGD:1601445 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070, PMID:21828285 RGD:10043099 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM
ClinVar
PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 PMID:26648449 PMID:28125075 PMID:28492532 PMID:30827058 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
Mandibuloacral Dysplasia with Type A Lipodystrophy 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: Mandibuloacral dysplasia with type A lipodystrophy
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical
ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
ClinVar Annotator: match by term: Mandibuloacral dysostosis
ClinVar Annotator: match by term: CRANIOMANDIBULAR DERMATODYSOSTOSIS
DNA:missense mutation:cds:p.R527H (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:248370
OMIM
ClinVar
CTD
PMID:10080180 PMID:10612827 PMID:10655060 PMID:10999845 PMID:11503164 PMID:12075506 PMID:12628721 PMID:12629077 PMID:12768443 PMID:12784312 PMID:12788894 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14749366 PMID:15140538 PMID:15286156 PMID:15298354 PMID:15475483 PMID:15998779 PMID:16174718 PMID:16278265 PMID:16440304 PMID:16772334 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17377071 PMID:17848409 PMID:17935239 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18604166 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19084400 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19875404 PMID:20848652 PMID:20980393 PMID:21520333 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23497705 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24861648 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25982065 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27199538 PMID:27532257 PMID:27585670 PMID:27707468 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:29943882 PMID:30137533 PMID:30165862 PMID:30420677 PMID:30871747 PMID:30901896 PMID:31303467 PMID:31525256 PMID:32004434 PMID:32456328, PMID:16046620 RGD:12791023 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
Mandibuloacral Dysplasia with Type B Lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy
ClinVar Annotator: match by term: Lipodystrophy, type B, associated with mandibuloacral dysplasia
ClinVar Annotator: match by OMIM:608612
OMIM
ClinVar
PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:15843403 PMID:15937076 PMID:16297189 PMID:17152860 PMID:18414213 PMID:18435794 PMID:19020898 PMID:19139791 PMID:19504603 PMID:19645629 PMID:19680556 PMID:20034068 PMID:20635340 PMID:20814950 PMID:21108632 PMID:21121943 PMID:21831885 PMID:22495976 PMID:22718200 PMID:24169522 PMID:25629449 PMID:25741868 PMID:28492532 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: MARFAN LIPODYSTROPHY SYNDROME
ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
ClinVar Annotator: match by term: Marfan lipodystrophy syndrome
ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME
ClinVar
OMIM
PMID:2005308 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8653794 PMID:8723076 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10464652 PMID:10533071 PMID:10612827 PMID:10633129 PMID:10930463 PMID:11068200 PMID:11139245 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12203987 PMID:12203992 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19353630 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20375004 PMID:20564469 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21883168 PMID:21895641 PMID:21907952 PMID:22772377 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24039054 PMID:24161884 PMID:24613577 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:26272055 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26787436 PMID:27087445 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30341550 PMID:30675029 PMID:30739908 PMID:31163209 PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
Nasu-Hakola disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by OMIM:221770
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
ClinVar PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 PMID:18546367 PMID:21834902 PMID:23399524 PMID:25615530 PMID:25741868 PMID:27995897 PMID:28492532 PMID:28768830 PMID:29142083 NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:221770
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 PMID:17430113 PMID:20500450 PMID:22082900 PMID:27658901 PMID:28492532 PMID:28620717 NCBI chr 1:88,875,370...88,879,305
Ensembl chr 1:88,875,375...88,879,303
JBrowse link
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
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 ClinVar
OMIM
PMID:6681564 PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 PMID:19019460 PMID:23150934 PMID:23399524 PMID:24119542 PMID:24685331 PMID:24899047 PMID:25186855 PMID:25615530 PMID:25741868 PMID:25886450 PMID:27067662 PMID:27995897 PMID:28376694 PMID:28492532 PMID:28768830 PMID:29142083 NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
Progressive Encephalopathy, with or without Lipodystrophy 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 OMIM:615924
ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy
ClinVar
OMIM
PMID:11479539 PMID:18093937 PMID:23564749 PMID:25741868 PMID:26282322 PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomp proteasome maturation protein ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 ClinVar
OMIM
PMID:12022327 PMID:25741868 PMID:26524591 PMID:29805043 NCBI chr12:8,746,948...8,759,433
Ensembl chr12:8,746,855...8,759,599
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 ClinVar
OMIM
PMID:21953331 PMID:26524591 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 ClinVar
OMIM
PMID:26524591 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        Metabolic Skin Diseases 35
          lipodystrophy + 35
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          skin disease 2715
            Metabolic Skin Diseases 35
              lipodystrophy + 35
              necrobiosis lipoidica 0
paths to the root