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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_004955513 4,142,074 4,145,097 RGD:9068941
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link NW_004955599 505,725 514,225 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_004955513 4,142,074 4,145,097 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_004955599 505,725 514,225 RGD:9068941
RGD:7240710
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004955429 14,814,690 14,936,869 RGD:9068941
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link NW_004955432 22,258,262 22,292,403 RGD:9068941
RGD:7240710
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated protein 1 JBrowse link NW_004955451 16,364,915 16,374,523 RGD:9068941
RGD:7240710
familial partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt2 AKT serine/threonine kinase 2 JBrowse link NW_004955578 950,258 1,004,438 RGD:9068941
G Cav1 caveolin 1 JBrowse link NW_004955432 22,258,262 22,292,403 RGD:9068941
G Cavin1 caveolae associated protein 1 JBrowse link NW_004955451 16,364,915 16,374,523 RGD:9068941
G Cidec cell death inducing DFFA like effector c JBrowse link NW_004955561 1,363,907 1,376,144 RGD:9068941
G Lipe lipase E, hormone sensitive type JBrowse link NW_004955555 511,085 531,165 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004955545 2,290,076 2,310,982 RGD:9068941
G Plin1 perilipin 1 JBrowse link NW_004955416 15,538,309 15,549,275 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004955429 14,814,690 14,936,869 RGD:9068941
G Zmpste24 zinc metallopeptidase STE24 JBrowse link NW_004955537 82,724 134,609 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_004955545 2,290,076 2,310,982 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_004955599 505,725 514,225 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004955429 14,814,690 14,936,869 RGD:7240710
RGD:9068941
G Ppp1r3a protein phosphatase 1 regulatory subunit 3A JBrowse link NW_004955432 19,854,649 19,893,148 RGD:9068941
familial partial lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plin1 perilipin 1 JBrowse link NW_004955416 15,538,309 15,549,275 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_004955561 1,363,907 1,376,144 RGD:9068941
RGD:7240710
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_004955555 511,085 531,165 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_004955420 20,911,181 20,922,992 RGD:9068941
G Adrb3 adrenoceptor beta 3 JBrowse link NW_004955463 13,663,064 13,665,553 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004955412 13,807,361 13,826,007 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004955545 2,290,076 2,310,982 RGD:9068941
G Zmpste24 zinc metallopeptidase STE24 JBrowse link NW_004955537 82,724 134,609 RGD:9068941
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome subunit alpha 3 JBrowse link NW_004955466 11,979,482 11,997,952 RGD:9068941
G Psmb8 proteasome subunit beta 8 JBrowse link NW_004955437 1,500,477 1,504,072 RGD:9068941
RGD:7240710
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_004955407 36,670,824 36,923,960 RGD:9068941
RGD:7240710
lipoatrophic diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr2 C-C motif chemokine receptor 2 JBrowse link NW_004955420 25,641,184 25,664,413 RGD:9068941
G Insr insulin receptor JBrowse link NW_004955563 1,867,400 2,011,845 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004955545 2,290,076 2,310,982 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_004955513 4,142,074 4,145,097 RGD:9068941
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link NW_004955599 505,725 514,225 RGD:9068941
G Ebf1 EBF transcription factor 1 JBrowse link NW_004955408 12,735,893 13,121,700 RGD:9068941
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link NW_004955555 2,393,510 2,430,180 RGD:9068941
G Insr insulin receptor JBrowse link NW_004955563 1,867,400 2,011,845 RGD:9068941
G Lmna lamin A/C JBrowse link NW_004955545 2,290,076 2,310,982 RGD:9068941
G Lmnb2 lamin B2 JBrowse link NW_004955495 4,826,653 4,851,984 RGD:9068941
G Lpin1 lipin 1 JBrowse link NW_004955487 6,139,188 6,207,316 RGD:9068941
G Parp2 poly(ADP-ribose) polymerase 2 JBrowse link NW_004955550 1,138,976 1,152,293 RGD:9068941
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link NW_004955559 712,375 730,551 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004955429 14,814,690 14,936,869 RGD:9068941
G Zmpste24 zinc metallopeptidase STE24 JBrowse link NW_004955537 82,724 134,609 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_004955432 22,258,262 22,292,403 RGD:9068941
RGD:7240710
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_004955559 712,375 730,551 RGD:9068941
RGD:7240710
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link NW_004955545 2,290,076 2,310,982 RGD:9068941
RGD:7240710
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 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_004955537 82,724 134,609 RGD:9068941
RGD:7240710
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link NW_004955409 5,281,603 5,502,547 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_004955437 7,780,886 7,785,597 RGD:9068941
G Tyrobp TYRO protein tyrosine kinase binding protein JBrowse link NW_004955468 2,673,657 2,677,633 RGD:9068941
RGD:7240710
partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb2 lamin B2 JBrowse link NW_004955495 4,826,653 4,851,984 RGD:9068941
RGD:7240710
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_004955437 7,780,886 7,785,597 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_004955599 505,725 514,225 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10457
    Nutritional and Metabolic Diseases 2935
      disease of metabolism 2935
        Metabolic Skin Diseases 30
          lipodystrophy + 30
          necrobiosis lipoidica 0
Path 2
Term Annotations click to browse term
  disease 10457
    disease of anatomical entity 10045
      nervous system disease 7759
        sensory system disease 3707
          skin disease 1923
            Metabolic Skin Diseases 30
              lipodystrophy + 30
              necrobiosis lipoidica 0
paths to the root