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Standards Ontologies Notations
lipodystrophy

Summary
Definition
A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.
Super Class
connective tissue disease
Disease Ontology
DOID:811
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
4000 LMNA lamin A/C
5468 PPARG peroxisome proliferator activated receptor gamma
6347 CCL2 C-C motif chemokine ligand 2
10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
23175 LPIN1 lipin 1
26580 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin
Displaying all 5 entries
Gene ID Gene Symbol Description Source
13591 Ebf1 early B cell factor 1
14705 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin
16905 Lmna lamin A
19016 Pparg peroxisome proliferator activated receptor gamma
20296 Ccl2 C-C motif chemokine ligand 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24770 Ccl2 C-C motif chemokine ligand 2
25664 Pparg peroxisome proliferator-activated receptor gamma
361722 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024