| Disease ID | Source | Name | Description |
| 613393 | OMIM | Birbeck granule deficiency (BIRGD) | A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity. The disease is caused by variants affecting the gene represented in this entry. |