Simpson-Golabi-Behmel syndrome type 1
Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.
MONDO:0003847
hereditary disease
is_a
MONDO:0010731
Simpson-Golabi-Behmel syndrome
is_a
GPC3 Simpson-Golabi-Behmel syndrome
exact
SGBS1
exact
Simpson dysmorphia syndrome
exact
Simpson-Golabi-Behmel syndrome caused by mutation in GPC3
exact
Simpson-Golabi-Behmel syndrome, type 1
related
Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive
exact
bulldog syndrome
exact