| Disease ID | Source | Name | Description |
| 231070 | OMIM | Geroderma osteodysplasticum (GO) | A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. The disease is caused by variants affecting the gene represented in this entry. |