Shwachman-Diamond syndrome 1
A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene.
MONDO:0009833
Shwachman-Diamond syndrome
is_a
MONDO:0021094
immunodeficiency disease
is_a
SBDS-related Shwachman Diamond syndrome
exact
SDS1
related
Shwachman-Diamond syndrome 1
exact
SPAC4F8.03 SPBC21C3.19