foveal hypoplasia 1
Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.
MONDO:0044203
foveal hypoplasia
is_a
MONDO:0800183
PAX6-related ocular dysgenesis
is_a
FVH1
related
O Donnell Pappas syndrome
related
PAX6 foveal hypoplasia
exact
foveal hypoplasia 1
exact
foveal hypoplasia caused by mutation in PAX6
exact
foveal hypoplasia type 1
exact
foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts
related
foveal hypoplasia, presenile cataract
related