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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 A Deficiency
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Accession:DOID:9008550 term browser browse the term
Definition:A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)
Synonyms:exact_synonym: Vitamin A Deficiencies
 primary_id: MESH:D014802;   RDO:0001619
For additional species annotation, visit the Alliance of Genome Resources.


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Vitamin A Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16120438 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 treatment ISO
IEP
RGD PMID:25451926, PMID:22554462 RGD:13782197, RGD:13782256 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 1:257,676,172...258,004,428
Ensembl chr 1:257,970,345...258,004,434
JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 treatment IEP RGD PMID:11724755 RGD:13782260 NCBI chr 5:134,196,910...134,207,888
Ensembl chr 5:134,196,912...134,207,863
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
JBrowse link
G Hamp hepcidin antimicrobial peptide IEP mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by OMIM:115300 OMIM
ClinVar
PMID:5453458, PMID:17951468 NCBI chr19:49,637,059...49,673,577
Ensembl chr19:49,637,016...49,673,808
JBrowse link
keratomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
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 A Deficiency 13
                Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive 0
                Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
                keratomalacia 1
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 A Deficiency 13
                    Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive 0
                    Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
                    keratomalacia 1
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.