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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 3 4,044,741 4,055,384 RGD:10047097
RGD:11554173
RGD:8554872
G Bscl2 BSCL2, seipin lipid droplet biogenesis associated JBrowse link 1 225,035,956 225,046,137 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 JBrowse link 3 4,044,741 4,055,384 RGD:8554872
RGD:7240710
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2, seipin lipid droplet biogenesis associated JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:7240710
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:13592920
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:7240710
RGD:8554872
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:7240710
RGD:8554872
familial partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt2 AKT serine/threonine kinase 2 JBrowse link 1 84,400,939 84,451,223 RGD:11554173
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:11554173
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:8554872
G Cidec cell death-inducing DFFA-like effector c JBrowse link 4 145,377,482 145,390,497 RGD:11554173
G Lipe lipase E, hormone sensitive type JBrowse link 1 82,248,031 82,266,727 RGD:11554173
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
RGD:8554872
RGD:12791019
G Plin1 perilipin 1 JBrowse link 1 141,458,907 141,470,927 RGD:11554173
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:11554173
RGD:8554872
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:13592920
familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2, seipin lipid droplet biogenesis associated JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 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 1 141,458,907 141,470,927 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 4 145,377,482 145,390,497 RGD:7240710
RGD:8554872
familial partial lipodystrophy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipe lipase E, hormone sensitive type JBrowse link 1 82,248,031 82,266,727 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 11 81,330,845 81,344,488 RGD:8694470
G Adrb3 adrenoceptor beta 3 JBrowse link 16 69,003,541 69,006,632 RGD:5684895
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655915
RGD:8655934
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:8549721
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:11554173
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome subunit alpha 3 JBrowse link 6 93,423,029 93,444,223 RGD:8554872
G Psmb8 proteasome subunit beta 8 JBrowse link 20 3,990,809 3,993,772 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 11 35,011,007 35,262,362 RGD:7240710
RGD:8554872
lipoatrophic diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr2 C-C motif chemokine receptor 2 RGD:8657358
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:1302525
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 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 3 4,044,741 4,055,384 RGD:1598785
G Bscl2 BSCL2, seipin lipid droplet biogenesis associated JBrowse link 1 225,035,956 225,046,137 RGD:1600601
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:1581157
G Ebf1 EBF transcription factor 1 JBrowse link 10 23,654,849 24,051,627 RGD:13592920
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:10401088
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:1302525
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:2306123
RGD:8554872
G Lmnb2 lamin B2 JBrowse link 7 11,657,870 11,676,936 RGD:13592920
G Lpin1 lipin 1 JBrowse link 6 41,796,214 41,905,149 RGD:13592920
G Parp2 poly (ADP-ribose) polymerase 2 JBrowse link 15 27,739,416 27,749,650 RGD:11554173
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:11554173
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:1601445
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 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 4 44,597,123 44,630,206 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 1 100,538,066 100,554,105 RGD:7240710
RGD:8554872
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
RGD:12791023
RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 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 5 139,982,404 140,015,541 RGD:7240710
RGD:8554872
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 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 9 14,611,541 14,618,076 RGD:8554872
G Tyrobp Tyro protein tyrosine kinase binding protein JBrowse link 1 88,875,370 88,879,305 RGD:7240710
RGD:8554872
partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb2 lamin B2 JBrowse link 7 11,657,870 11,676,936 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 9 14,611,541 14,618,076 RGD:8554872
RGD:7240710
Progressive Encephalopathy, with or without Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2, seipin lipid droplet biogenesis associated JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        Metabolic Skin Diseases 31
          lipodystrophy + 31
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Metabolic Skin Diseases 31
              lipodystrophy + 31
              necrobiosis lipoidica 0
paths to the root