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:Erythrocyte Amp Deaminase Deficiency
go back to main search page
Accession:DOID:9006043 term browser browse the term
Synonyms:primary_id: MESH:C567878;   RDO:0015768
 alt_id: MIM:612874


show annotations for term's descendants           Sort by:
Erythrocyte Amp Deaminase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd3 adenosine monophosphate deaminase 3 ISO ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7881427 PMID:8004104 PMID:25158045 PMID:25741868 PMID:28492532 NCBI chr 1:164,884,823...164,929,899
Ensembl chr 1:164,885,320...164,929,887 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      musculoskeletal system disease 8466
        muscular disease 2212
          Erythrocyte Amp Deaminase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        peripheral nervous system disease 4259
          neuropathy 4045
            neuromuscular disease 3189
              muscular disease 2212
                Erythrocyte Amp Deaminase Deficiency 1
paths to the root