ONTOLOGY REPORT - ANNOTATIONS


Term:familial isolated deficiency of vitamin E
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Accession:DOID:0090028 term browser browse the term
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. (DO)
Synonyms:exact_synonym: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY;   AVED;   Ataxia with Vitamin E Deficiency;   Ataxia with isolated vitamin E deficiency;   Familial Isolated Vitamin E Deficiency;   Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency;   Friedreich-Like Ataxia;   Friedreich-like ataxia with selective vitamin E deficiency;   VED
 primary_id: MESH:C535393;   RDO:0000491
 alt_id: OMIM:277460
 xref: ORDO:96
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familial isolated deficiency of vitamin E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:11554173
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:11554173
G Ttpa alpha tocopherol transfer protein JBrowse link 5 34,007,926 34,029,315 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1808
          vitamin metabolic disorder 24
            familial isolated deficiency of vitamin E 3
Path 2
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          nutrition disease 832
            Malnutrition 182
              nutritional deficiency disease 175
                Avitaminosis 114
                  Vitamin E Deficiency 4
                    familial isolated deficiency of vitamin E 3
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