Disease ID | Source | Name | Description |
601650 | OMIM | Paragangliomas 2 (PGL2) | A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. The disease is caused by variants affecting the gene represented in this entry. |