| Disease ID | Source | Name | Description |
| 613404 | OMIM | Arthrogryposis, renal dysfunction and cholestasis syndrome 2 (ARCS2) | A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. The disease is caused by variants affecting the gene represented in this entry. In liver, CEACAM5 and ABCB11 are mislocalized and E-cadherin expression is decreased. |