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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 9 136,722,914 136,737,286 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 61,399,314 61,416,494 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 9 136,722,914 136,737,286 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 11 61,399,314 61,416,494 RGD:9068941
RGD:7240710
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,560,670 12,705,060 RGD:9068941
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV1 caveolin 1 JBrowse link 7 121,193,678 121,229,655 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 17 15,117,091 15,136,724 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 19 45,791,043 45,846,359 RGD:9068941
G CAV1 caveolin 1 JBrowse link 7 121,193,678 121,229,655 RGD:9068941
G CAVIN1 caveolae associated protein 1 JBrowse link 17 15,117,091 15,136,724 RGD:9068941
G CIDEC cell death inducing DFFA like effector c JBrowse link 3 10,048,161 10,174,570 RGD:9068941
G LIPE lipase E, hormone sensitive type JBrowse link 19 47,881,292 47,907,066 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
G PLIN1 perilipin 1 JBrowse link 15 87,565,468 87,579,467 RGD:9068941
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,560,670 12,705,060 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,869,076 40,912,747 RGD:9068941
familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 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 11 61,399,314 61,416,494 RGD:9068941
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,560,670 12,705,060 RGD:7240710
RGD:9068941
G PPP1R3A protein phosphatase 1 regulatory subunit 3A JBrowse link 7 118,529,362 118,571,591 RGD:9068941
familial partial lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLIN1 perilipin 1 JBrowse link 15 87,565,468 87,579,467 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 3 10,048,161 10,174,570 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 19 47,881,292 47,907,066 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 3 192,341,471 192,354,885 RGD:9068941
G ADRB3 adrenoceptor beta 3 JBrowse link 8 34,440,099 34,444,043 RGD:9068941
G IL18 interleukin 18 JBrowse link 11 110,867,586 110,888,371 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
G MMP1 matrix metallopeptidase 1 JBrowse link 11 101,221,393 101,230,104 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,869,076 40,912,747 RGD:9068941
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PSMA3 proteasome subunit alpha 3 JBrowse link 14 57,105,891 57,133,181 RGD:9068941
G PSMB8 proteasome subunit beta 8 JBrowse link 6 33,525,681 33,529,897 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 21 37,339,201 37,634,876 RGD:7240710
RGD:9068941
lipoatrophic diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCR2 C-C motif chemokine receptor 2 JBrowse link 3 47,361,118 47,368,312 RGD:9068941
G INSR insulin receptor JBrowse link 19 7,255,444 7,411,916 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 9 136,722,914 136,737,286 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 61,399,314 61,416,494 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G EBF1 EBF transcription factor 1 JBrowse link 5 160,708,235 161,108,634 RGD:9068941
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 50,951,674 50,994,600 RGD:9068941
G INSR insulin receptor JBrowse link 19 7,255,444 7,411,916 RGD:9068941
G LMNA lamin A/C JBrowse link 1 135,253,700 135,311,542 RGD:9068941
G LMNB2 lamin B2 JBrowse link 19 2,406,296 2,430,568 RGD:9068941
G LPIN1 lipin 1 JBrowse link 2A 11,847,419 11,961,551 RGD:9068941
G PARP2 poly(ADP-ribose) polymerase 2 JBrowse link 14 19,268,986 19,282,960 RGD:9068941
G POLD1 DNA polymerase delta 1, catalytic subunit JBrowse link 19 56,251,356 56,284,263 RGD:9068941
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,560,670 12,705,060 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,869,076 40,912,747 RGD:9068941
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV1 caveolin 1 JBrowse link 7 121,193,678 121,229,655 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 19 56,251,356 56,284,263 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 1 135,253,700 135,311,542 RGD:7240710
RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 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 1 40,869,076 40,912,747 RGD:7240710
RGD:9068941
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 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 6 42,043,887 42,048,578 RGD:9068941
G TYROBP TYRO protein tyrosine kinase binding protein JBrowse link 19 41,570,674 41,575,226 RGD:7240710
RGD:9068941
partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNB2 lamin B2 JBrowse link 19 2,406,296 2,430,568 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 6 42,043,887 42,048,578 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 11 61,399,314 61,416,494 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11056
    Nutritional and Metabolic Diseases 3047
      disease of metabolism 3047
        Metabolic Skin Diseases 32
          lipodystrophy + 32
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 11056
    disease of anatomical entity 10611
      nervous system disease 8190
        sensory system disease 3857
          skin disease 2027
            Metabolic Skin Diseases 32
              lipodystrophy + 32
              necrobiosis lipoidica 0
paths to the root