Leber congenital amaurosis 1
Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.
MONDO:0018998
Leber congenital amaurosis
is_a
MONDO:0100453
GUCY2D-related recessive retinopathy
is_a
CRB
related
GUCY2D Leber congenital amaurosis
exact
LCA
related
LCA1
exact
Leber congenital amaurosis 1
exact
Leber congenital amaurosis caused by mutation in GUCY2D
exact
Leber congenital amaurosis type 1
exact
amaurosis congenita of Leber, type 1
related