pheochromocytoma/paraganglioma syndrome 4
An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHB 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
PGL4
related
SDHB paraganglioma
exact
SDHB-related hereditary paraganglioma-pheochromocytoma syndrome
related
SDHB-related tumor predisposition
exact
carotid body tumours and multiple extraadrenal Pheochromocytomas
related
paraganglioma caused by mutation in SDHB
exact
paragangliomas 4
exact
paragangliomas type 4
exact
pheochromocytoma, extraadrenal and cervical paraganglioma
related
pheochromocytoma/paraganglioma syndrome 4
exact
SPAC140.01