Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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
 narrow_synonym: hereditary acrodermatitis enteropathica
 broad_synonym: SLC39A4-related condition
 xref: GARD:5723;   MESH:C538178;   MIM:201100;   MONDO:0008713;   NCI:C128802


show annotations for term's descendants           Sort by:
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 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
ClinVar		 PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... NCBI chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    Nutritional and Metabolic Diseases 7491
      disease of metabolism 7491
        inherited metabolic disorder 5943
          metal metabolism disorder 243
            acrodermatitis enteropathica 1
Path 2
Term Annotations click to browse term
  disease 15758
    Nutritional and Metabolic Diseases 7491
      disease of metabolism 7491
        acquired metabolic disease 2314
          nutrition disease 832
            Malnutrition 265
              nutritional deficiency disease 247
                Zinc Deficiency 7
                  acrodermatitis enteropathica 1
paths to the root