Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Genes: vipas39.L (Xla)

arthrogryposis, renal dysfunction, and cholestasis 2

Disease
Source: DOID:0111354
Definition: An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.
Genes: vipas39.L (Xla)