pheochromocytoma/paraganglioma syndrome 2
An autosomal dominant tumor predisposition disorder caused by pathogenic variants in the SDHAF2 gene, characterized by an increased risk of paraganglioma, particularly head and neck paragangliomas.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0000448
paraganglioma
is_a
MONDO:0002714
central nervous system cancer
is_a
MONDO:0006295
malignant urinary system neoplasm
is_a
MONDO:0017366
hereditary pheochromocytoma-paraganglioma
is_a
MONDO:0021069
malignant endocrine neoplasm
is_a
MONDO:0021089
peripheral nervous system cancer
is_a
PGL2
related
SDHAF2 paraganglioma
exact
SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)
related
SDHAF2-related tumor predisposition
exact
paraganglioma caused by mutation in SDHAF2
exact
paragangliomas 2
exact
paragangliomas type 2
exact
pheochromocytoma/paraganglioma syndrome 2
exact
SPAC12B10.06c