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   new 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

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:autosomal recessive pyridoxine-refractory sideroblastic anemia 3
go back to main search page
Accession:DOID:0080343 term browser browse the term
Definition:A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: SIDBA3;   pyridoxine-refractory sideroblastic anemia 3;   sideroblastic anemia-3
 primary_id: OMIM:616860
 alt_id: RDO:9000362


show annotations for term's descendants           Sort by:
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3 OMIM
ClinVar		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    syndrome 10387
      myelodysplastic syndrome 244
        Refractory Anemia 32
          sideroblastic anemia 21
            autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
Path 2
Term Annotations click to browse term
  disease 16106
    disease of anatomical entity 15662
      Hemic and Lymphatic Diseases 3778
        hematopoietic system disease 3275
          bone marrow disease 764
            Bone Marrow Neoplasms 496
              bone marrow cancer 496
                myelodysplastic syndrome 244
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1
paths to the root