Disease ID | Source | Name | Description |
204690 | OMIM | Amelogenesis imperfecta 1G (AI1G) | A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. The disease is caused by variants affecting the gene represented in this entry. |