| Disease ID | Source | Name | Description |
| 184500 | OMIM | Steatocystoma multiplex (SM) | Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. The disease is caused by variants affecting the gene represented in this entry. |
| 167210 | OMIM | Pachyonychia congenita 2 (PC2) | An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. The disease is caused by variants affecting the gene represented in this entry. |