glycogen storage disease type 1 due to SLC37A4 mutation
Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.
MONDO:0002413
glycogen storage disease I
is_a
G6P translocase deficiency
broad
SLC37A4 glycogen storage disease I
exact
glucose-6-phosphate translocase deficiency
exact
glycogen storage disease I caused by mutation in SLC37A4
exact