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DO Term : familial isolated deficiency of vitamin E [DOID:0090028] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:277460,
  • familial isolated vitamin E deficiency,
  • SNOMEDCT_US_2023_03_01:702442008,
  • ORDO:96,
  • 277460,
  • UMLS_CUI:C1848533,
  • ataxia with isolated vitamin E deficiency,
  • MESH:C535393,
  • NCI:C155996
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents