| Disease ID | Source | Name | Description |
| 214950 | OMIM | Congenital bile acid synthesis defect 4 (CBAS4) | A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency. The disease is caused by variants affecting the gene represented in this entry. |
| 614307 | OMIM | Alpha-methylacyl-CoA racemase deficiency (AMACRD) | A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. The disease is caused by variants affecting the gene represented in this entry. |