| Disease ID | Source | Name | Description |
| 246700 | OMIM | Chylomicron retention disease (CMRD) | An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets. The disease is caused by variants affecting the gene represented in this entry. |