familial isolated deficiency of vitamin E
Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
MONDO:0005528
inborn vitamin metabolic disorder
is_a
MONDO:0020044
autosomal recessive metabolic cerebellar ataxia
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
AVED
exact
Ataxia with Vitamin E Deficiency
exact
Friedreich-like ataxia
exact
Friedreich-like ataxia with selective vitamin E deficiency
related
VED
related
ataxia with isolated vitamin E deficiency
exact
familial isolated deficiency of vitamin type E
exact
familial isolated vitamin E deficiency
exact
isolated vitamin E deficiency
exact
vitamin E, familial isolated deficiency OF
related