pheochromocytoma/paraganglioma syndrome 3
An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHC gene, characterized by an increased risk of paraganglioma and pheochromocytoma, as well as an increased risk of renal cell carcinoma and gastrointestinal stromal tumors (GIST).
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0000448
paraganglioma
is_a
MONDO:0017366
hereditary pheochromocytoma-paraganglioma
is_a
PGL3
related
SDHC paraganglioma
exact
SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)
related
SDHC-related tumor predisposition
exact
paraganglioma caused by mutation in SDHC
exact
paragangliomas 3
exact
paragangliomas type 3
exact
pheochromocytoma/paraganglioma syndrome 3
exact
SPCC330.12c