Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital dyserythropoietic anemia type II
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
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 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
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.