Version: 8.0.0Date: Tue Jan 28 2025
Disease Disease Group: musculoskeletal system disease Genes: Pparg (Mmu)
Disease
Source: DOID:9074
Definition: A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
Genes: Pparg (Mmu)
Source: DOID:0050440
Definition: A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
Genes: Pparg (Mmu)
Source: DOID:0070204
Definition: A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25.
Genes: Pparg (Mmu)
Disease
Source: DOID:811
Definition: A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.
Genes: Pparg (Mmu)
Source: DOID:0111136
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
Genes: Pparg (Mmu)