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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
 xref: EFO:1001237

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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 chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 treatment ISO RGD PMID:11724755 RGD:13782260 NCBI chr 9:88,082,124...88,125,390 JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO mRNA:increased expression:aorta RGD PMID:17047345 RGD:13782261 NCBI chr 8:138,531,113...138,541,721
Ensembl chr 8:138,531,384...138,541,637 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:19217259 RGD:11041734 NCBI chr 6:30,214,820...30,218,100
Ensembl chr 6:30,215,563...30,217,996 		JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:increased expression:liver (rat) RGD PMID:22154532 RGD:12904026 NCBI chr26:4,842,328...4,905,941
Ensembl chr26:4,842,122...4,905,964 		JBrowse link
G LOC103216270 cytochrome P450 26A1 treatment ISO RGD PMID:22554462 PMID:25451926 RGD:13782197 RGD:13782256 NCBI chr 9:86,310,142...86,328,622
Ensembl chr 9:86,325,401...86,328,775 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16174770 NCBI chr 7:101,297,114...101,304,675
Ensembl chr 7:101,297,691...101,302,520 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18676402 NCBI chr25:3,350,798...3,405,040 JBrowse link
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16157297 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		JBrowse link
G TGM1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr24:1,231,827...1,248,018
Ensembl chr24:1,232,004...1,245,462 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:aorta RGD PMID:21512820 RGD:7207803 NCBI chr20:32,616,425...32,635,903
Ensembl chr20:32,615,333...32,635,862 		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 term: Hypercarotenemia and vitamin a deficiency, autosomal dominant OMIM
ClinVar		 PMID:5453458 PMID:17951468 PMID:25741868 NCBI chr 5:66,681,756...66,730,832
Ensembl chr 5:66,681,513...66,733,604 		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 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15342
    Nutritional and Metabolic Diseases 7357
      nutrition disease 802
        Malnutrition 253
          nutritional deficiency disease 237
            Avitaminosis 200
              Vitamin A Deficiency 12
                Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
                Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive 0
                keratomalacia 1
Path 2
Term Annotations click to browse term
  disease 15342
    Nutritional and Metabolic Diseases 7357
      disease of metabolism 7357
        acquired metabolic disease 2205
          nutrition disease 802
            Malnutrition 253
              nutritional deficiency disease 237
                Avitaminosis 200
                  Vitamin A Deficiency 12
                    Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
                    Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive 0
                    keratomalacia 1
paths to the root