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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
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Accession:DOID:9001631 term browser browse the term
Synonyms:exact_synonym: microcytic anemia and hepatic iron overload;   microcytic anemia with liver iron overload
 primary_id: MESH:C567144
 xref: OMIM:PS206100


show annotations for term's descendants           Sort by:
Hypochromic Microcytic Anemia with Iron Overload term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcytic anemia with liver iron overload		 CTD
ClinVar		 PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More... NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953 		JBrowse link
G Steap3 STEAP family member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Steap3 STEAP family member 3 ISO ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 OMIM
ClinVar		 PMID:22031863 NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      hematopoietic system disease 3274
        anemia 786
          microcytic anemia 78
            hypochromic microcytic anemia 9
              Hypochromic Microcytic Anemia with Iron Overload 2
                Hypochromic Microcytic Anemia with Iron Overload 1 1
                Hypochromic Microcytic Anemia with Iron Overload 2 1
Path 2
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        acquired metabolic disease 2381
          nutrition disease 915
            Malnutrition 331
              nutritional deficiency disease 315
                iron deficiency anemia 95
                  microcytic anemia 78
                    hypochromic microcytic anemia 9
                      Hypochromic Microcytic Anemia with Iron Overload 2
                        Hypochromic Microcytic Anemia with Iron Overload 1 1
                        Hypochromic Microcytic Anemia with Iron Overload 2 1
paths to the root