| Disease ID | Source | Name | Description |
| 600121 | OMIM | Rhizomelic chondrodysplasia punctata 3 (RCDP3) | A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity. The disease is caused by variants affecting the gene represented in this entry. |