A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
Synonyms: Isolated vitamin E deficiency Friedreich-like ataxia Ataxia with isolated vitamin E deficiency AVED Familial isolated vitamin E deficiency
This is just here as a test because I lose it
Term information
database cross reference
- UMLS:C1848533 (E (Exact mapping: the two concepts are equivalent))
- MedDRA:10047631 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:G11.1 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- OMIM:277460 (E (Exact mapping: the two concepts are equivalent))
- MeSH:C535393 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:G11.1 (Attributed (The ICD10 code is attributed by Orphanet))
Term relations
Subclass of:
- disease
- part_of some Neurometabolic disease
- has_inheritance some autosomal recessive
- part_of some Autosomal recessive metabolic cerebellar ataxia
- part_of some Rare hereditary metabolic disease with peripheral neuropathy
- part_of some Syndromic rod-cone dystrophy
- has_age_of_onset some all ages
- present_in some Europe and has_point_prevalence_range some 1-9 / 1 000 000 and has_point_prevalence_average_value value 0.33
- part_of some Disorder of other vitamins and cofactors metabolism and transport