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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:xref: EFO:1000003


show annotations for term's descendants           Sort by:
Zinc Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car14 carbonic anhydrase 14 IEP RGD PMID:24634117 RGD:408427354 NCBI chr 2:186,131,196...186,138,164
Ensembl chr 2:183,441,667...183,449,693 		JBrowse link
G Car2 carbonic anhydrase 2 IEP protein:decreased expression:submandibular gland RGD PMID:24634117 PMID:17761013 RGD:408427354, RGD:408427355 NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP mRNA:decreased expression:liver (rat) RGD PMID:20404036 RGD:12904966 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Slc30a3 solute carrier family 30 member 3 IEP RGD PMID:24634117 RGD:408427354 NCBI chr 6:25,264,310...25,284,720
Ensembl chr 6:25,275,528...25,284,720 		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: Acrodermatitis enteropathica zinc deficiency type | 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 7:110,214,017...110,218,202
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 5:151,843,451...151,855,674
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 19139
    Nutritional and Metabolic Diseases 8544
      nutrition disease 1036
        Malnutrition 284
          nutritional deficiency disease 264
            Zinc Deficiency 7
              Neonatal Zinc Deficiency due to Low Breast Milk Zinc 1
              acrodermatitis enteropathica 1
Path 2
Term Annotations click to browse term
  disease 19139
    Nutritional and Metabolic Diseases 8544
      disease of metabolism 8544
        acquired metabolic disease 2544
          nutrition disease 1036
            Malnutrition 284
              nutritional deficiency disease 264
                Zinc Deficiency 7
                  Neonatal Zinc Deficiency due to Low Breast Milk Zinc 1
                  acrodermatitis enteropathica 1
paths to the root