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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: 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;   ataxia and retinitis pigmentosa with 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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18458655 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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 PMID:8965888 PMID:9463307 PMID:9588854 PMID:9931538 PMID:10360777 PMID:10896705 PMID:11013295 PMID:11752462 PMID:12039660 PMID:12112220 PMID:12470185 PMID:12899840 PMID:12907280 PMID:15065857 PMID:15300460 PMID:15953402 PMID:16819822 PMID:17049453 PMID:18414213 PMID:18458085 PMID:18458655 PMID:19566498 PMID:21228398 PMID:22696689 PMID:23077608 PMID:23445347 PMID:23599266 PMID:23713716 PMID:24033266 PMID:24369383 PMID:25614784 PMID:25741868 PMID:26068213 PMID:26467025 PMID:27274910 PMID:27307040 PMID:28492532 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        inherited metabolic disorder 2233
          vitamin metabolic disorder 37
            familial isolated deficiency of vitamin E 3
Path 2
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        acquired metabolic disease 2752
          nutrition disease 887
            Malnutrition 194
              nutritional deficiency disease 185
                Avitaminosis 112
                  Vitamin E Deficiency 4
                    familial isolated deficiency of vitamin E 3
paths to the root