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DOID:0090028 - familial isolated deficiency of vitamin E
Disease Ontology 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.
Synonyms: ataxia with isolated vitamin E deficiency, familial isolated vitamin E deficiency,
Xenbase Genes : ttpa
MONDO:0010188 - familial isolated deficiency of vitamin E |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee