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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 48,864,300 48,877,627 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 18 53,958,380 53,971,120 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 48,864,300 48,877,627 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 18 53,958,380 53,971,120 RGD:9068941
RGD:7240710
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 20 6,134,618 6,265,481 RGD:9068941
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 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 9 20,511,079 20,525,973 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 1 113,359,038 113,407,119 RGD:9068941
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 RGD:9068941
G CAVIN1 caveolae associated protein 1 JBrowse link 9 20,511,079 20,525,973 RGD:9068941
G CIDEC cell death inducing DFFA like effector c JBrowse link 20 8,386,334 8,402,076 RGD:9068941
G LIPE lipase E, hormone sensitive type JBrowse link 1 111,987,862 112,006,492 RGD:9068941
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 RGD:9068941
G PLIN1 perilipin 1 JBrowse link 3 52,657,178 52,670,573 RGD:9068941
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 20 6,134,618 6,265,481 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 15 2,669,546 2,708,480 RGD:9068941
familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 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 18 53,958,380 53,971,120 RGD:9068941
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 20 6,134,618 6,265,481 RGD:7240710
RGD:9068941
G PPP1R3A protein phosphatase 1 regulatory subunit 3A JBrowse link 14 53,169,836 53,216,817 RGD:9068941
familial partial lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLIN1 perilipin 1 JBrowse link 3 52,657,178 52,670,573 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 20 8,386,334 8,402,076 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 1 111,987,862 112,006,492 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 34 19,398,310 19,410,519 RGD:9068941
G ADRB3 adrenoceptor beta 3 JBrowse link 16 27,445,601 27,446,796 RGD:9068941
G IL18 interleukin 18 JBrowse link 5 20,972,742 20,995,327 RGD:9068941
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 RGD:9068941
G MMP1 matrix metallopeptidase 1 JBrowse link 5 28,978,385 28,986,644 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 15 2,669,546 2,708,480 RGD:9068941
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PSMA3 proteasome subunit alpha 3 JBrowse link 8 33,616,735 33,642,434 RGD:9068941
G PSMB8 proteasome subunit beta 8 JBrowse link 12 2,419,456 2,422,832 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 31 32,752,585 33,010,999 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 20 42,305,344 42,313,258 RGD:9068941
G INSR insulin receptor JBrowse link 20 52,017,261 52,136,061 RGD:9068941
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 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 48,864,300 48,877,627 RGD:9068941
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 18 53,958,380 53,971,120 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G EBF1 EBF transcription factor 1 JBrowse link 4 51,378,314 51,765,768 RGD:9068941
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 110,130,353 110,146,660 RGD:9068941
G INSR insulin receptor JBrowse link 20 52,017,261 52,136,061 RGD:9068941
G LMNA lamin A/C JBrowse link 7 41,702,491 41,719,870 RGD:9068941
G LMNB2 lamin B2 JBrowse link 20 56,652,183 56,663,476 RGD:9068941
G LPIN1 lipin 1 JBrowse link 17 8,348,860 8,480,447 RGD:9068941
G PARP2 poly(ADP-ribose) polymerase 2 JBrowse link 15 17,705,966 17,716,743 RGD:9068941
G POLD1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 106,302,583 106,331,353 RGD:9068941
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 20 6,134,618 6,265,481 RGD:9068941
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 15 2,669,546 2,708,480 RGD:9068941
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 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 1 106,302,583 106,331,353 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 7 41,702,491 41,719,870 RGD:7240710
RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 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 15 2,669,546 2,708,480 RGD:7240710
RGD:9068941
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 30 14,640,973 14,864,151 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 12 9,915,692 9,928,322 RGD:9068941
G TYROBP TYRO protein tyrosine kinase binding protein JBrowse link 1 116,757,271 116,760,453 RGD:7240710
RGD:9068941
partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNB2 lamin B2 JBrowse link 20 56,652,183 56,663,476 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 12 9,915,692 9,928,322 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 18 53,958,380 53,971,120 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11199
    Nutritional and Metabolic Diseases 3138
      disease of metabolism 3138
        Metabolic Skin Diseases 32
          lipodystrophy + 32
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 11199
    disease of anatomical entity 10750
      nervous system disease 8289
        sensory system disease 3910
          skin disease 2051
            Metabolic Skin Diseases 32
              lipodystrophy + 32
              necrobiosis lipoidica 0
paths to the root