| Disease ID | Source | Name | Description |
| 200600 | OMIM | Achondrogenesis 1A (ACG1A) | A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. The disease is caused by variants affecting the gene represented in this entry. |
| 184260 | OMIM | Odontochondrodysplasia (ODCD) | An autosomal recessive disorder of skeletal and dental development characterized by mesomelic shortening of tubular bones, ligamentous laxity, scoliosis, and dentinogenesis imperfecta involving both primary and secondary dentition. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses. The disease is caused by variants affecting the gene represented in this entry. |