Disease ID | Source | Name | Description |
190320 | OMIM | Trichodentoosseous syndrome (TDO) | An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. The disease is caused by variants affecting the gene represented in this entry. |
104510 | OMIM | Amelogenesis imperfecta 4 (AI4) | An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. The disease is caused by variants affecting the gene represented in this entry. |