aceruloplasminemia
An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
MONDO:0016624
hereditary anemia
is_a
MONDO:0017763
disorder of iron metabolism and transport
is_a
MONDO:0018307
neurodegeneration with brain iron accumulation
is_a
MONDO:0019118
inherited retinal dystrophy
is_a
aceruloplasminemia
exact
cerebellar ataxia
broad
familial apoceruloplasmin deficiency
related
hereditary ceruloplasmin deficiency
exact
hypoceruloplasminemia, hereditary
exact
systemic hemosiderosis due to aceruloplasminemia
related