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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:Vitamin E Deficiency
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Accession:DOID:9006575 term browser browse the term
Definition:A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)
Synonyms:exact_synonym: Vitamin E Deficiencies
 primary_id: MESH:D014811;   RDO:0000492
For additional species annotation, visit the Alliance of Genome Resources.


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Vitamin E Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:increased degradation:erythrocyte, membrane (rat) RGD PMID:3458208 RGD:10450477 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11095717 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link
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 term: Familial isolated deficiency of vitamin E
ClinVar Annotator: match by term: Ataxia with vitamin E deficiency
ClinVar Annotator: match by term: Ataxia, Friedreich-like, with isolated vitamin E deficiency
ClinVar Annotator: match by OMIM:277460
CTD Direct Evidence: marker/mechanism
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, PMID:30311386 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 16023
    Nutritional and Metabolic Diseases 4727
      nutrition disease 921
        Malnutrition 201
          nutritional deficiency disease 193
            Avitaminosis 109
              Vitamin E Deficiency 4
                Steatitis 0
                familial isolated deficiency of vitamin E 3
Path 2
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        acquired metabolic disease 2786
          nutrition disease 921
            Malnutrition 201
              nutritional deficiency disease 193
                Avitaminosis 109
                  Vitamin E Deficiency 4
                    Steatitis 0
                    familial isolated deficiency of vitamin E 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.