OBO ID: DOID:0090028
Term Name: familial isolated deficiency of vitamin E Search Ontology:
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:
OTHER familial isolated deficiency of vitamin E PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TTPA Ataxia with isolated vitamin E deficiency 277460
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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