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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.



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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
RGD
PMID:19187773 RGD:10047097 NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 More... NCBI chr 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
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
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 term: Lipodystrophy, congenital generalized, type 3
ClinVar Annotator: match by OMIM:612526
OMIM
ClinVar
PMID:18211975 PMID:25356970 PMID:25741868 PMID:25898808 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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 More... NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
JBrowse link
G Lipe lipase E, hormone sensitive type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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
RGD
PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10999791 More... RGD:12791019 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Plin1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISS OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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:15140538 PMID:15475483 PMID:15998779 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 More... NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
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 term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
ClinVar Annotator: match by OMIM:615238
OMIM
ClinVar
PMID:18654663 PMID:20049731 PMID:25741868 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
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 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965
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 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
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 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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 chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
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 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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
RGD
PMID:2007407 PMID:2270059 PMID:10080180 PMID:10580070 PMID:10587585 More... RGD:1580516 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 3:9,416,842...9,428,567
Ensembl chr 3:9,416,843...9,428,371
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CGL2, OMIM:269700, DNA:frameshift:exon
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25462787 PMID:11479539 RGD:1600601 NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:16697654 RGD:1581157 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ebf1 EBF transcription factor 1 ISS OMIM:608709 MouseDO NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:24011075 RGD:10401088 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
JBrowse link
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.R482Q, p.R482W (human)
ClinVar Annotator: match by term: Lipodystrophy
ClinVar
RGD
PMID:12920062 PMID:15060110 PMID:19095983 PMID:19169477 PMID:19589617 More... RGD:2306123 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Lpin1 lipin 1 ISS OMIM:608709 MouseDO NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
JBrowse link
G Parp2 poly (ADP-ribose) polymerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21417348 NCBI chr15:24,034,069...24,044,340
Ensembl chr15:24,034,106...24,044,338
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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
RGD
PMID:10622252 PMID:15254591 PMID:22461176 PMID:25157153 PMID:10622252 RGD:1601445 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12913070 PMID:21828285 RGD:10043099 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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:25741868 PMID:25898808 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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:25583476 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 More... NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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: Lipodystrophy, type A, associated with mandibuloacral dysplasia
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: 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
RGD
PMID:10080180 PMID:10612827 PMID:10655060 PMID:10999845 PMID:11503164 More... RGD:12791023 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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 More... NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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 1
ClinVar PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 PMID:18546367 More... NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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 More... NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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: Lipodystrophy, partial, acquired, susceptibility to
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 More... NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
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 Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
ClinVar
OMIM
PMID:6681564 PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 More... NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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:19226263 PMID:23564749 PMID:24024128 More... NCBI chr 1:205,731,814...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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 chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715
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 Annotator: match by term: Proteasome-associated autoinflammatory syndrome 3
ClinVar
OMIM
PMID:21953331 PMID:25741868 PMID:26524591 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
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 chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 OMIM
ClinVar
PMID:30664889 NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
JBrowse link
Proteasome-Associated Autoinflammatory Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 OMIM
ClinVar
PMID:31783057 NCBI chr19:33,830,958...33,833,442 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        Metabolic Skin Diseases 37
          lipodystrophy + 37
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Metabolic Skin Diseases 37
              lipodystrophy + 37
              necrobiosis lipoidica 0
paths to the root