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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital dyserythropoietic anemia type IV
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Accession:DOID:0111400 term browser browse the term
Definition:A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in KLF1 on chromosome 19p13.13. (DO)
Synonyms:exact_synonym: CDA IV;   CDA due to KLF1 mutation;   CDA type 4;   CDA, type IV;   CDAN4;   congenital dyserythropoietic anemia due to KLF1 mutation;   congenital dyserythropoietic anemia, type 4
 primary_id: OMIM:613673
 xref: ORDO:293825
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congenital dyserythropoietic anemia type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klf1 Kruppel like factor 1 JBrowse link 19 26,016,289 26,019,557 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          congenital hemolytic anemia 127
            congenital dyserythropoietic anemia 8
              congenital dyserythropoietic anemia type IV 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      Hemic and Lymphatic Diseases 1742
        hematopoietic system disease 1465
          anemia 379
            normocytic anemia 176
              hemolytic anemia 176
                congenital hemolytic anemia 127
                  congenital dyserythropoietic anemia 8
                    congenital dyserythropoietic anemia type IV 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.