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paragangliomas 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0013602:  paragangliomas 5
UMLS:C3279992: