Disease ID | Source | Name | Description |
613102 | OMIM | Hypotrichosis and recurrent skin vesicles (HRSV) | A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. The disease is caused by variants affecting the gene represented in this entry. |