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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: AVED;   Ataxia with Vitamin E Deficiency;   Friedreich ataxia phenotype with selective vitamin E deficiency;   Friedreich-like ataxia;   Friedreich-like ataxia with isolated vitamin E deficiency;   Friedreich-like ataxia with selective vitamin E deficiency;   VED;   ataxia and retinitis pigmentosa with isolated vitamin E deficiency;   ataxia with isolated vitamin E deficiency;   familial isolated vitamin E deficiency
 primary_id: MESH:C535393
 alt_id: OMIM:277460
 xref: NCI:C155996;   ORDO:96
For additional species annotation, visit the Alliance of Genome Resources.



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familial isolated deficiency of vitamin E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO ClinVar Annotator: match by OMIM:277460
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia, Friedreich-like, with isolated vitamin E deficiency
ClinVar Annotator: match by term: Ataxia with vitamin E deficiency
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E
OMIM
ClinVar
CTD
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 More... NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        inherited metabolic disorder 2661
          vitamin metabolic disorder 37
            familial isolated deficiency of vitamin E 3
Path 2
Term Annotations click to browse term
  disease 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        acquired metabolic disease 2907
          nutrition disease 920
            Malnutrition 225
              nutritional deficiency disease 216
                Avitaminosis 121
                  Vitamin E Deficiency 4
                    familial isolated deficiency of vitamin E 3
paths to the root