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paragangliomas 1

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.
Uniprot Description A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors.
Mondo Term and Equivalent IDs
MONDO:0008192:  paragangliomas 1
GARD:0007324: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found