Leber congenital amaurosis 11
Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.
MONDO:0018998
Leber congenital amaurosis
is_a
MONDO:1040051
IMPDH1-related retinopathy
is_a
IMPDH1 Leber congenital amaurosis
exact
LCA11
exact
Leber congenital amaurosis 11
exact
Leber congenital amaurosis caused by mutation in IMPDH1
exact
Leber congenital amaurosis type 11
exact
amaurosis congenita of Leber, type 11
related
SPBC2F12.14c