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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: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;   SEC23B-CDG;   congenital dyserythropoietic anaemia type 2;   congenital dyserythropoietic anaemia type II;   congenital dyserythropoietic anemia, type 2;   hereditary erythroblast multinuclearity with positive acidified serum;   hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas);   hereditary erythroblastic multinuclearity with positive acidified-serum test
 primary_id: OMIM:224100
 xref: GARD:2001;   NCI:C175991;   ORDO:98873
For additional species annotation, visit the Alliance of Genome Resources.


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congenital dyserythropoietic anemia type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: HEMPAS anemia OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19561605 PMID:19621418 PMID:20015893 More... NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital hemolytic anemia 176
        congenital dyserythropoietic anemia 17
          congenital dyserythropoietic anemia type II 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          anemia 637
            normocytic anemia 223
              hemolytic anemia 223
                congenital hemolytic anemia 176
                  congenital dyserythropoietic anemia 17
                    congenital dyserythropoietic anemia type II 1
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