| Disease ID | Source | Name | Description |
| 130900 | OMIM | Amelogenesis imperfecta 3A (AI3A) | An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. The disease is caused by variants affecting the gene represented in this entry. |