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ONTOLOGY REPORT - ANNOTATIONS
Term:congenital dyserythropoietic anemia type II
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Accession:DOID:0111401 term browser browse the term
Definition:A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23. (DO)
Synonyms:exact_synonym: CDA II;   CDA type 2;   CDA type II;   CDAN2;   Dyserythropoietic Anemia, HEMPAS Type;   HEMPAS;   HEMPAS Anemia;   HEMPAS Anemias;   Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas);   SEC23B-CDG;   congenital dyserythropoietic anemia, type 2;   hereditary erythroblast multinuclearity with positive acidified serum;   hereditary erythroblastic multinuclearity with positive acidified-serum test
 primary_id: OMIM:224100
 xref: GARD:2001;   ORDO:98873
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congenital dyserythropoietic anemia type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec23b Sec23 homolog B, COPII coat complex component JBrowse link 3 138,715,118 138,757,111 RGD:8554872
RGD:7240710
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Path 1
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  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 II 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 II 1
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