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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 (lysophosphatidic acid acyltransferase, beta) JBrowse link 2 26,593,057 26,604,417 RGD:10047097
RGD:11554173
RGD:8554872
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) JBrowse link 19 8,837,467 8,848,683 RGD:8554872
RGD:11554173
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) JBrowse link 2 26,593,057 26,604,417 RGD:8554872
RGD:13592920
RGD:7240710
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) JBrowse link 19 8,837,467 8,848,683 RGD:8554872
RGD:7240710
RGD:13592920
G Pparg peroxisome proliferator activated receptor gamma JBrowse link 6 115,360,877 115,490,404 RGD:13592920
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1, caveolae protein JBrowse link 6 17,306,335 17,341,328 RGD:7240710
RGD:8554872
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated 1 JBrowse link 11 100,956,736 100,971,212 RGD:7240710
RGD:13592920
RGD:8554872
familial partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt2 thymoma viral proto-oncogene 2 JBrowse link 7 27,591,557 27,639,453 RGD:11554173
G Cav1 caveolin 1, caveolae protein JBrowse link 6 17,306,335 17,341,328 RGD:11554173
G Cavin1 caveolae associated 1 JBrowse link 11 100,956,736 100,971,212 RGD:8554872
G Cidec cell death-inducing DFFA-like effector c JBrowse link 6 113,424,634 113,435,760 RGD:11554173
G Lipe lipase, hormone sensitive JBrowse link 7 25,379,527 25,398,486 RGD:11554173
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:11554173
RGD:8554872
RGD:12791019
G Plin1 perilipin 1 JBrowse link 7 79,721,164 79,732,903 RGD:11554173
G Pparg peroxisome proliferator activated receptor gamma JBrowse link 6 115,360,877 115,490,404 RGD:11554173
RGD:13592920
RGD:8554872
G Zmpste24 zinc metallopeptidase, STE24 JBrowse link 4 121,059,237 121,098,249 RGD:13592920
familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) JBrowse link 19 8,837,467 8,848,683 RGD:8554872
G Pparg peroxisome proliferator activated receptor gamma JBrowse link 6 115,360,877 115,490,404 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 7 79,721,164 79,732,903 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 6 113,424,634 113,435,760 RGD:7240710
RGD:8554872
familial partial lipodystrophy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipe lipase, hormone sensitive JBrowse link 7 25,379,527 25,398,486 RGD:8554872
RGD:7240710
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 16 23,146,536 23,157,968 RGD:8694470
G Adrb3 adrenergic receptor, beta 3 JBrowse link 8 27,225,776 27,230,807 RGD:5684895
G Il18 interleukin 18 JBrowse link 9 50,554,705 50,581,841 RGD:8655915
RGD:8655934
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:11554173
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) JBrowse link 9 7,464,141 7,476,869 RGD:8549721
G Zmpste24 zinc metallopeptidase, STE24 JBrowse link 4 121,059,237 121,098,249 RGD:11554173
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome (prosome, macropain) subunit, alpha type 3 JBrowse link 12 70,969,413 70,995,877 RGD:8554872
G Psmb8 proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) JBrowse link 17 34,198,195 34,201,454 RGD:7240710
RGD:8554872
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 JBrowse link 16 94,748,683 94,997,696 RGD:7240710
RGD:8554872
lipoatrophic diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr2 chemokine (C-C motif) receptor 2 JBrowse link 9 124,101,918 124,109,140 RGD:8657358
G Insr insulin receptor JBrowse link 8 3,150,922 3,279,649 RGD:1302525
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:1580516
RGD:8554872
lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) JBrowse link 2 26,593,057 26,604,417 RGD:1598785
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) JBrowse link 19 8,837,467 8,848,683 RGD:1600601
RGD:11554173
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:1581157
G Ebf1 early B cell factor 1 JBrowse link 11 44,618,100 45,008,096 RGD:13592920
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 JBrowse link 7 19,344,418 19,356,524 RGD:10401088
G Insr insulin receptor JBrowse link 8 3,150,922 3,279,649 RGD:1302525
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:2306123
RGD:8554872
G Lmnb2 lamin B2 JBrowse link 10 80,901,363 80,918,245 RGD:13592920
G Lpin1 lipin 1 JBrowse link 12 16,535,669 16,646,969 RGD:13592920
G Parp2 poly (ADP-ribose) polymerase family, member 2 JBrowse link 14 50,807,897 50,821,301 RGD:11554173
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit JBrowse link 7 44,532,744 44,548,815 RGD:11554173
G Pparg peroxisome proliferator activated receptor gamma JBrowse link 6 115,360,877 115,490,404 RGD:1601445
G Zmpste24 zinc metallopeptidase, STE24 JBrowse link 4 121,059,237 121,098,249 RGD:10043099
RGD:11554173
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1, caveolae protein JBrowse link 6 17,306,335 17,341,328 RGD:7240710
RGD:8554872
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit JBrowse link 7 44,532,744 44,548,815 RGD:7240710
RGD:8554872
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:7240710
RGD:8554872
RGD:12791023
RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,744 164,955,850 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 4 121,059,237 121,098,249 RGD:7240710
RGD:8554872
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 2 125,300,594 125,506,485 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 17 48,346,401 48,352,276 RGD:8554872
G Tyrobp TYRO protein tyrosine kinase binding protein JBrowse link 7 30,413,788 30,417,582 RGD:7240710
RGD:13592920
RGD:8554872
partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb2 lamin B2 JBrowse link 10 80,901,363 80,918,245 RGD:7240710
RGD:8554872
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 17 48,346,401 48,352,276 RGD:8554872
RGD:7240710
Progressive Encephalopathy, with or without Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) JBrowse link 19 8,837,467 8,848,683 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11668
    Nutritional and Metabolic Diseases 3255
      disease of metabolism 3255
        Metabolic Skin Diseases 31
          lipodystrophy + 31
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 11668
    disease of anatomical entity 11173
      nervous system disease 8511
        sensory system disease 4003
          skin disease 2102
            Metabolic Skin Diseases 31
              lipodystrophy + 31
              necrobiosis lipoidica 0
paths to the root