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Details
Link-It Detail - Disease - Lipodystrophy
Debug Stats
  • ### Total Build Time: 226 ms 44.899 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 458 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 1,004 bytes
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 1.445 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 4.101 KB
  • CONCEPT_RELATIONSHIPS gt=169 ms Completed: 169 ms rowSize= 12.921 KB
  • CONCEPT_GENES gt=29 ms Completed: 29 ms rowSize= 23.330 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lipodystrophy C0023787
Definition (1)
A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Skin Diseases, Metabolic C0037279
img Lipid Metabolism Disorders C0154251
Children (3)
img HIV-Associated Lipodystrophy Syndrome C1136321
img Lipodystrophy, Familial Partial C0271694
img Lipodystrophy, Congenital Generalized C0221032
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Metabolic C0037279
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Skin Diseases, Metabolic C0037279
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Lipid Metabolism Disorders C0154251
Relationships (65)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 13
diso_​to_​diso : 43
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 34
classifies : 2
isa : 7
mapped_​to : 21
use : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO140img HIV Infections C0019693
DISO_to_DISO104img chemically induced C0007994
DISO_to_DISO89img chemically induced C0007994
DISO_to_PHEN88img genetic aspects C0017399
DISO_to_DISO84img HIV Infections C0019693
DISO_to_DISO81img Complication Aspects C1171258
DISO_to_PHEN77img genetic aspects C0017399
DISO_to_DISO51img Complication Aspects C1171258
DISO_to_CHEM45img AIDS Drugs C0376565
DISO_to_ANAT39img Adipose Tissue C0001527
DISO_to_ANAT30img In Blood C0005768
DISO_to_ANAT29img Adipose Tissue C0001527
DISO_to_CHEM25img Leptin C0299583
DISO_to_CHEM24img Insulin C0021641
DISO_to_DISO23img Insulin Resistance C0021655
DISO_to_CHEM22img Reverse Transcriptase Inhibitors C0282519
DISO_to_CHEM19img AIDS Drugs C0376565
DISO_to_ANAT18img Face C0015450
DISO_to_CHEM16img HIV Protease Inhibitors C0162714
DISO_to_CHEM15img Lamin Type A C0125258
DISO_to_CHEM15img Leptin C0299583
DISO_to_PHYS14img Mutation C0026882
DISO_to_ANAT13img In Blood C0005768
DISO_to_DISO13img Diabetes Mellitus, Insulin-Dependent C0011854
DISO_to_CHEM12img Agents, Antihyperglycemic C0020616
Genes (19)

Species:
human : 19
SpeciesGeneGeneIdGene NameEvidence
HumanSLC28A364078solute carrier family 28 (concentrative nucleoside transporter), member 3
img GENERIF, Score=1000, Pubmed Id: 17926640, UMLKSK CUI: C0023787
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
INFERRED, Score=800, UMLKSK CUI: C0023787
HumanLPIN123175lipin 1
img GENERIF, Score=1000, Pubmed Id: 12111372, UMLKSK CUI: C0023787
img GENERIF, Score=1000, Pubmed Id: 18591397, UMLKSK CUI: C0023787
HumanAGPAT2105551-acylglycerol-3-phosphate O-acyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0023787
HumanZMPSTE2410269zinc metallopeptidase STE24
INFERRED, Score=800, UMLKSK CUI: C0023787
HumanADIPOQ9370adiponectin, C1Q and collagen domain containing
img GENERIF, Score=1000, Pubmed Id: 12713059, UMLKSK CUI: C0023787
HumanNR0B28431nuclear receptor subfamily 0, group B, member 2
img GENERIF, Score=1000, Pubmed Id: 12181644, UMLKSK CUI: C0023787
HumanTNF7124tumor necrosis factor
img GENERIF, Score=1000, Pubmed Id: 16423623, UMLKSK CUI: C0023787
img GAD, Score=1000, Pubmed Id: 12478078, UMLKSK CUI: C0023787
img GENERIF, Score=827, Pubmed Id: 12370499, UMLKSK CUI: C0023787
HumanCCL26347chemokine (C-C motif) ligand 2
img GENERIF, Score=1000, Pubmed Id: 16697654, UMLKSK CUI: C0023787
HumanRARB5915retinoic acid receptor, beta
INFERRED, Score=800, UMLKSK CUI: C0023787
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img OMIM, Score=1000, UMLKSK CUI: C0023787
HumanLMNA4000lamin A/C
img GENERIF, Score=1000, Pubmed Id: 17711925, UMLKSK CUI: C0023787
img GENERIF, Score=1000, Pubmed Id: 18077842, UMLKSK CUI: C0023787
img OMIM, Score=1000, UMLKSK CUI: C0023787
img OMIM, Score=1000, UMLKSK CUI: C0023787
img GENERIF, Score=1000, Pubmed Id: 12196663, UMLKSK CUI: C0023787
img GENERIF, Score=660, Pubmed Id: 15026149, UMLKSK CUI: C0023787
HumanLEP3952leptin
img GENERIF, Score=1000, Pubmed Id: 15983199, UMLKSK CUI: C0023787
img GENERIF, Score=1000, Pubmed Id: 12713059, UMLKSK CUI: C0023787
HumanIL83576interleukin 8
INFERRED, Score=800, UMLKSK CUI: C0023787
HumanIL63569interleukin 6 (interferon, beta 2)
INFERRED, Score=800, UMLKSK CUI: C0023787
HumanIL1B3553interleukin 1, beta
INFERRED, Score=800, UMLKSK CUI: C0023787
HumanCRABP21382cellular retinoic acid binding protein 2
img GENERIF, Score=1000, Pubmed Id: 12844477, UMLKSK CUI: C0023787
HumanCAV1857caveolin 1, caveolae protein, 22kDa
img GENERIF, Score=861, Pubmed Id: 18237401, UMLKSK CUI: C0023787
HumanFAS355Fas cell surface death receptor
img GENERIF, Score=861, Pubmed Id: 16368755, UMLKSK CUI: C0023787
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023787Lipodystrophy0self