| Disease ID | Source | Name | Description |
| 313500 | OMIM | Tooth agenesis, selective, X-linked, 1 (STHAGX1) | A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). The disease is caused by variants affecting the gene represented in this entry. |
| 305100 | OMIM | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) | A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. The disease is caused by variants affecting the gene represented in this entry. |