Disease ID | Source | Name | Description |
616270 | OMIM | Amelogenesis imperfecta 1F (AI1F) | A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition. The disease is caused by variants affecting the gene represented in this entry. |