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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:Zinc Deficiency
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Accession:DOID:9003921 term browser browse the term
Definition:A nutritional condition produced by a deficiency of zinc in the diet. Symptoms include growth and development problems, hair loss, diarrhea, impotence, eye and skin conditions, and loss of appetite. (mayoclinic.org)
Synonyms:primary_id: RDO:9001297
 xref: EFO:1000003


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Zinc Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:liver (rat) RGD PMID:20404036 RGD:12904966 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 IEP mRNA:increased expression:lung, kidney (rat) RGD PMID:20859692 RGD:11553849 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO
ISS		 DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition
OMIM:201100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		JBrowse link
Neonatal Zinc Deficiency due to Low Breast Milk Zinc term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Zinc deficiency, transient neonatal
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17065149 PMID:22733820 PMID:24456035 PMID:25741868 PMID:28665435 NCBI chr 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      nutrition disease 1089
        Malnutrition 344
          nutritional deficiency disease 328
            Zinc Deficiency 4
              Neonatal Zinc Deficiency due to Low Breast Milk Zinc 1
              acrodermatitis enteropathica 1
Path 2
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        acquired metabolic disease 2535
          nutrition disease 1089
            Malnutrition 344
              nutritional deficiency disease 328
                Zinc Deficiency 4
                  Neonatal Zinc Deficiency due to Low Breast Milk Zinc 1
                  acrodermatitis enteropathica 1
paths to the root