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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:Hypochromic Microcytic Anemia with Iron Overload 2
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Accession:DOID:9008190 term browser browse the term
Synonyms:exact_synonym: AHMIO2
 primary_id: OMIM:615234
 alt_id: RDO:9000876


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Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STEAP3 STEAP3 metalloreductase ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 OMIM
ClinVar		 PMID:22031863 NCBI chr19:30,745,910...30,795,310
Ensembl chr19:30,747,921...30,795,338 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      hematopoietic system disease 3188
        anemia 751
          microcytic anemia 77
            hypochromic microcytic anemia 9
              Hypochromic Microcytic Anemia with Iron Overload 2
                Hypochromic Microcytic Anemia with Iron Overload 2 1
Path 2
Term Annotations click to browse term
  disease 17773
    Nutritional and Metabolic Diseases 7183
      disease of metabolism 7183
        acquired metabolic disease 2301
          nutrition disease 884
            Malnutrition 324
              nutritional deficiency disease 309
                iron deficiency anemia 93
                  microcytic anemia 77
                    hypochromic microcytic anemia 9
                      Hypochromic Microcytic Anemia with Iron Overload 2
                        Hypochromic Microcytic Anemia with Iron Overload 2 1
paths to the root