ornithine aminotransferase deficiency
A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.
MONDO:0001898
optic choroid disorder
is_a
MONDO:0017356
inborn disorder of ornithine metabolism
is_a
MONDO:0019118
inherited retinal dystrophy
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0043218
neurovascular disorder
is_a
Fuchs atrophia gyrata chorioideae et retinae
related
Fuchs gyrate atrophy
related
Fuchs gyrate atrophy of the choroid and retina
related
GACR
exact
Girate atrophy of the retina
related
HOGA
exact
OAT deficiency
related
OKT deficiency
related
Ornithinemia
related
gyrate atrophy
exact
gyrate atrophy of choroid and retina
related
gyrate atrophy of choroid and retina with or without ornithinemia
exact
hoga
exact
hyperornithinemia
exact
hyperornithinemia with gyrate atrophy of choroid and retina
related
hyperornithinemia-gyrate atrophy of choroid and retina syndrome
exact
ornithine aminotransferase deficiency
exact
ornithine ketoacid aminotransferase deficiency
related
SPBC21C3.08c