Disease ID | Source | Name | Description |
618475 | OMIM | Paragangliomas 7 (PGL7) | An autosomal dominant tumor predisposition syndrome characterized by adult-onset development of paragangliomas, neural crest tumors usually derived from the chromoreceptor tissue of a paraganglion. PGL7 tumors are generally benign, tend to be abdominal, and often secrete normetanephrine. Disease susceptibility is associated with variants affecting the gene represented in this entry. |