| Disease ID | Source | Name | Description |
| 204650 | OMIM | Amelogenesis imperfecta 1C (AI1C) | An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion. The disease is caused by variants affecting the gene represented in this entry. |
| 104500 | OMIM | Amelogenesis imperfecta 1B (AI1B) | An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). The disease is caused by variants affecting the gene represented in this entry. |