OBO ID: DOID:0090028 |
Term Name: | familial isolated deficiency of vitamin E | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0090028 ) |
OTHER familial isolated deficiency of vitamin E PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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