Disease ID | Source | Name | Description |
617337 | OMIM | Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) | A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. The disease may be caused by variants affecting the gene represented in this entry. |