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Disease Ontology Browser
familial isolated deficiency of vitamin E (DOID:0090028)
Alliance: disease page
Synonyms: ataxia with isolated vitamin E deficiency; familial isolated vitamin E deficiency
Alt IDs: OMIM:277460, MESH:C535393, ORDO:96, UMLS_CUI:C1848533
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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory