TMEM127-related tumor predisposition
An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the TMEM127 gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0000627
benign endocrine neoplasm
is_a
MONDO:0008233
pheochromocytoma
is_a
MONDO:0017366
hereditary pheochromocytoma-paraganglioma
is_a
TMEM127-related tumor predisposition
exact