| Disease ID | Source | Name | Description |
| 245010 | OMIM | Haim-Munk syndrome (HMS) | An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. The disease is caused by variants affecting the gene represented in this entry. |
| 245000 | OMIM | Papillon-Lefevre syndrome (PLS) | An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. The disease is caused by variants affecting the gene represented in this entry. |
| 170650 | OMIM | Periodontititis, aggressive, 1 (AP1) | A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting. The disease is caused by variants affecting the gene represented in this entry. |