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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 9 136,673,143 136,687,459 RGD:10047097
RGD:11554173
RGD:8554872
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8554872
RGD:11554173
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 9 136,673,143 136,687,459 RGD:8554872
RGD:7240710
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8554872
RGD:7240710
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,287,485 12,471,054 RGD:13592920
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV1 caveolin 1 JBrowse link 7 116,524,785 116,561,185 RGD:8554872
RGD:7240710
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAVIN1 caveolae associated protein 1 JBrowse link 17 42,402,449 42,423,320 RGD:8554872
RGD:7240710
familial partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKT2 AKT serine/threonine kinase 2 JBrowse link 19 40,230,317 40,285,531 RGD:11554173
G CAV1 caveolin 1 JBrowse link 7 116,524,785 116,561,185 RGD:11554173
G CAVIN1 caveolae associated protein 1 JBrowse link 17 42,402,449 42,423,320 RGD:8554872
G CIDEC cell death inducing DFFA like effector c JBrowse link 3 9,866,710 9,880,254 RGD:11554173
G LIPE lipase E, hormone sensitive type JBrowse link 19 42,401,507 42,427,426 RGD:11554173
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:12791019
RGD:8554872
RGD:11554173
G PLIN1 perilipin 1 JBrowse link 15 89,664,365 89,679,417 RGD:11554173
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,287,485 12,471,054 RGD:8554872
RGD:11554173
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,050 40,294,184 RGD:13592920
familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8554872
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,287,485 12,471,054 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLIN1 perilipin 1 JBrowse link 15 89,664,365 89,679,417 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CIDEC cell death inducing DFFA like effector c JBrowse link 3 9,866,710 9,880,254 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPE lipase E, hormone sensitive type JBrowse link 19 42,401,507 42,427,426 RGD:8554872
RGD:7240710
G LIPE-AS1 LIPE antisense RNA 1 JBrowse link 19 42,397,148 42,652,355 RGD:8554872
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 3 186,842,674 186,858,463 RGD:8694470
G ADRB3 adrenoceptor beta 3 JBrowse link 8 37,962,995 37,966,666 RGD:5684895
G IL18 interleukin 18 JBrowse link 11 112,143,251 112,164,117 RGD:8655915
RGD:8655934
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:11554173
G MMP1 matrix metallopeptidase 1 JBrowse link 11 102,789,910 102,798,235 RGD:8549721
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,050 40,294,184 RGD:11554173
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PSMA3 proteasome subunit alpha 3 JBrowse link 14 58,244,805 58,272,009 RGD:8554872
G PSMA3-AS1 PSMA3 antisense RNA 1 JBrowse link 14 58,265,365 58,298,137 RGD:8554872
G PSMB8 proteasome subunit beta 8 JBrowse link 6 32,840,717 32,844,935 RGD:7240710
RGD:8554872
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNJ6 potassium voltage-gated channel subfamily J member 6 JBrowse link 21 37,624,223 37,916,438 RGD:8554872
RGD:7240710
lipoatrophic diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 46,353,744 46,360,940 RGD:8657358
G INSR insulin receptor JBrowse link 19 7,112,255 7,294,405 RGD:1302525
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:1580516
RGD:8554872
lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 9 136,673,143 136,687,459 RGD:1598785
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:1600601
RGD:11554173
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 34,255,277 34,257,203 RGD:1581157
G EBF1 EBF transcription factor 1 JBrowse link 5 158,695,915 159,099,762 RGD:13592920
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 45,407,333 45,478,866 RGD:10401088
G INSR insulin receptor JBrowse link 19 7,112,255 7,294,405 RGD:1302525
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:2306123
RGD:8554872
G LMNB2 lamin B2 JBrowse link 19 2,428,165 2,456,968 RGD:13592920
G LPIN1 lipin 1 JBrowse link 2 11,677,544 11,827,409 RGD:13592920
G PARP2 poly(ADP-ribose) polymerase 2 JBrowse link 14 20,343,041 20,357,904 RGD:11554173
G POLD1 DNA polymerase delta 1, catalytic subunit JBrowse link 19 50,384,291 50,418,018 RGD:11554173
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,287,485 12,471,054 RGD:1601445
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,050 40,294,184 RGD:10043099
RGD:11554173
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV1 caveolin 1 JBrowse link 7 116,524,785 116,561,185 RGD:7240710
RGD:8554872
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLD1 DNA polymerase delta 1, catalytic subunit JBrowse link 19 50,384,291 50,418,018 RGD:8554872
RGD:7240710
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:12791023
RGD:8554872
RGD:11554173
RGD:7240710
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:11554173
Mandibuloacral Dysplasia with Type B Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,050 40,294,184 RGD:8554872
RGD:7240710
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 15 48,408,306 48,645,788 RGD:8554872
RGD:7240710
RGD:11554173
Nasu-Hakola disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TREM2 triggering receptor expressed on myeloid cells 2 JBrowse link 6 41,158,506 41,163,186 RGD:8554872
G TYROBP TYRO protein tyrosine kinase binding protein JBrowse link 19 35,904,401 35,908,309 RGD:8554872
RGD:7240710
partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNB2 lamin B2 JBrowse link 19 2,428,165 2,456,968 RGD:8554872
RGD:7240710
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TREM2 triggering receptor expressed on myeloid cells 2 JBrowse link 6 41,158,506 41,163,186 RGD:8554872
RGD:7240710
Progressive Encephalopathy, with or without Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8554872
RGD:7240710
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) JBrowse link 11 62,690,262 62,727,384 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15323
    Nutritional and Metabolic Diseases 4222
      disease of metabolism 4222
        Metabolic Skin Diseases 34
          lipodystrophy + 34
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 15323
    disease of anatomical entity 14207
      nervous system disease 10367
        sensory system disease 4388
          skin disease 2260
            Metabolic Skin Diseases 34
              lipodystrophy + 34
              necrobiosis lipoidica 0
paths to the root