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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:acrodermatitis enteropathica
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Accession:DOID:0050605 term browser browse the term
Definition:A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO)
Synonyms:exact_synonym: AEZ;   Acrodermatitis enteropathica zinc deficiency type;   SLC39A4-RELATED CONDITION
 narrow_synonym: hereditary acrodermatitis enteropathica
 primary_id: MESH:C538178
 alt_id: OMIM:201100
 xref: GARD:5723;   NCI:C128802


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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)
CTD Direct Evidence: marker/mechanism
OMIM:201100
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition		 OMIM
CTD
MouseDO
ClinVar
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          metal metabolism disorder 243
            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
                  acrodermatitis enteropathica 1
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