Shwachman-Diamond syndrome 2
Any Shwachman-Diamond syndrome in which the cause of the disease is a variation on the EFL1 gene, characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia.
MONDO:0009833
Shwachman-Diamond syndrome
is_a
EFL1-related Shwachman-Diamond syndrome
exact
SDS2
related
Shwachman-Diamond syndrome 2
exact
SPCC553.08c