Disease ID | Source | Name | Description |
606893 | OMIM | Vascular malformation, primary intraosseous (VMOS) | A rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |