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Human Disease

familial isolated deficiency of vitamin E

Term ID
DOID:0090028
Synonyms
  • ataxia with isolated vitamin E deficiency
  • familial isolated vitamin E deficiency
Definition
A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. (2)
References
Ontology
Human Disease   ( DOID:0090028 )
Relationships
is a type of
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Genes Involved
Zebrafish Models