| Disease ID | Source | Name | Description |
| 618386 | OMIM | Amelogenesis imperfecta 3C (AI3C) | An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides. The disease is caused by variants affecting the gene represented in this entry. |