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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 NW_004936669 1,185,204 1,198,972 RGD:9068941
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link NW_004936581 567,426 576,859 RGD:9068941
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 NW_004936669 1,185,204 1,198,972 RGD:9068941
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 NW_004936581 567,426 576,859 RGD:9068941
RGD:7240710
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004936602 1,230,907 1,368,588 RGD:9068941
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link NW_004936589 2,504,235 2,536,778 RGD:7240710
RGD:9068941
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated protein 1 JBrowse link NW_004936490 17,197,585 17,200,041 RGD:7240710
RGD:9068941
familial partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt2 AKT serine/threonine kinase 2 JBrowse link NW_004936661 2,652,568 2,694,039 RGD:9068941
G Cav1 caveolin 1 JBrowse link NW_004936589 2,504,235 2,536,778 RGD:9068941
G Cavin1 caveolae associated protein 1 JBrowse link NW_004936490 17,197,585 17,200,041 RGD:9068941
G Cidec cell death inducing DFFA like effector c JBrowse link NW_004936602 3,312,146 3,323,009 RGD:9068941
G Lipe lipase E, hormone sensitive type JBrowse link NW_004936706 122,939 139,506 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004936580 5,374,208 5,395,442 RGD:9068941
G Plin1 perilipin 1 JBrowse link NW_004936483 15,457,299 15,470,674 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004936602 1,230,907 1,368,588 RGD:9068941
G Zmpste24 zinc metallopeptidase STE24 JBrowse link NW_004936474 22,035,059 22,077,846 RGD:9068941
familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link NW_004936580 5,374,208 5,395,442 RGD:7240710
RGD:9068941
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 NW_004936581 567,426 576,859 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004936602 1,230,907 1,368,588 RGD:7240710
RGD:9068941
G Ppp1r3a protein phosphatase 1 regulatory subunit 3A JBrowse link NW_004936589 4,789,547 4,827,727 RGD:9068941
familial partial lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plin1 perilipin 1 JBrowse link NW_004936483 15,457,299 15,470,674 RGD:7240710
RGD:9068941
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 NW_004936602 3,312,146 3,323,009 RGD:7240710
RGD:9068941
familial partial lipodystrophy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipe lipase E, hormone sensitive type JBrowse link NW_004936706 122,939 139,506 RGD:7240710
RGD:9068941
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link NW_004936578 3,168,599 3,179,369 RGD:9068941
G Adrb3 adrenoceptor beta 3 JBrowse link NW_004936710 1,410,589 1,413,279 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004936612 2,306,963 2,325,086 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004936580 5,374,208 5,395,442 RGD:9068941
G Mmp1 matrix metallopeptidase 1 JBrowse link NW_004936551 5,167,909 5,175,149 RGD:9068941
G Zmpste24 zinc metallopeptidase STE24 JBrowse link NW_004936474 22,035,059 22,077,846 RGD:9068941
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome subunit alpha 3 JBrowse link NW_004936495 2,650,668 2,672,192 RGD:9068941
G Psmb8 proteasome subunit beta 8 JBrowse link NW_004936476 25,908,533 25,911,914 RGD:7240710
RGD:9068941
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 NW_004936500 5,002,668 5,164,511 RGD:7240710
RGD:9068941
lipoatrophic diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insr insulin receptor JBrowse link NW_004936588 4,345,306 4,453,380 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004936580 5,374,208 5,395,442 RGD:9068941
lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link NW_004936669 1,185,204 1,198,972 RGD:9068941
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link NW_004936581 567,426 576,859 RGD:9068941
G Ebf1 EBF transcription factor 1 JBrowse link NW_004936515 4,266,419 4,643,702 RGD:9068941
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link NW_004936706 1,854,938 1,867,521 RGD:9068941
G Insr insulin receptor JBrowse link NW_004936588 4,345,306 4,453,380 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004936580 5,374,208 5,395,442 RGD:9068941
G Lmnb2 lamin B2 JBrowse link NW_004936588 1,448,195 1,465,332 RGD:9068941
G Lpin1 lipin 1 JBrowse link NW_004936532 7,596,279 7,654,139 RGD:9068941
G Parp2 poly(ADP-ribose) polymerase 2 JBrowse link NW_004936877 554,969 564,905 RGD:9068941
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link NW_004936889 231,373 250,985 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004936602 1,230,907 1,368,588 RGD:9068941
G Zmpste24 zinc metallopeptidase STE24 JBrowse link NW_004936474 22,035,059 22,077,846 RGD:9068941
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link NW_004936589 2,504,235 2,536,778 RGD:7240710
RGD:9068941
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 NW_004936889 231,373 250,985 RGD:7240710
RGD:9068941
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link NW_004936580 5,374,208 5,395,442 RGD:7240710
RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004936514 7,038,240 7,045,873 RGD:9068941
Mandibuloacral Dysplasia with Type B Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmpste24 zinc metallopeptidase STE24 JBrowse link NW_004936474 22,035,059 22,077,846 RGD:7240710
RGD:9068941
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link NW_004936471 10,747,030 10,969,223 RGD:9068941
RGD:7240710
Nasu-Hakola disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trem2 triggering receptor expressed on myeloid cells 2 JBrowse link NW_004936476 18,659,725 18,665,406 RGD:9068941
G Tyrobp TYRO protein tyrosine kinase binding protein JBrowse link NW_004936570 457,993 460,735 RGD:7240710
RGD:9068941
partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb2 lamin B2 JBrowse link NW_004936588 1,448,195 1,465,332 RGD:7240710
RGD:9068941
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 NW_004936476 18,659,725 18,665,406 RGD:9068941
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 NW_004936581 567,426 576,859 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10612
    Nutritional and Metabolic Diseases 2972
      disease of metabolism 2972
        Metabolic Skin Diseases 30
          lipodystrophy + 30
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 10612
    disease of anatomical entity 10186
      nervous system disease 7884
        sensory system disease 3768
          skin disease 1964
            Metabolic Skin Diseases 30
              lipodystrophy + 30
              necrobiosis lipoidica 0
paths to the root