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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;   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;   ataxia with vitamin E deficiency;   familial isolated vitamin E deficiency
 primary_id: MESH:C535393
 alt_id: OMIM:277460
 xref: NCI:C155996;   ORDO:96


show annotations for term's descendants           Sort by:
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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:277460
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency		 OMIM
CTD
MouseDO
ClinVar		 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 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        inherited metabolic disorder 6257
          vitamin metabolic disorder 52
            familial isolated deficiency of vitamin E 3
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        acquired metabolic disease 2480
          nutrition disease 1022
            Malnutrition 273
              nutritional deficiency disease 256
                Avitaminosis 216
                  Vitamin E Deficiency 5
                    familial isolated deficiency of vitamin E 3
paths to the root