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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;   Congenital dyserythropoietic anaemia type 2;   Dyserythropoietic Anemia, HEMPAS Type;   HEMPAS;   HEMPAS Anemia;   HEMPAS Anemias;   Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas);   SEC23B-CDG;   congenital dyserythropoietic anaemia type II;   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.

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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: CDA II		 ClinVar
OMIM		 PMID:19561605 PMID:19621418 PMID:20015893 PMID:20941788 PMID:21252497 PMID:21850656 PMID:22208203 PMID:22428539 PMID:23453696 PMID:25044164 PMID:25741868 PMID:26522472 PMID:28492532 PMID:29031773 PMID:29901818 PMID:32581362 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital hemolytic anemia 136
        congenital dyserythropoietic anemia 9
          congenital dyserythropoietic anemia type II 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2059
        hematopoietic system disease 1642
          anemia 400
            normocytic anemia 179
              hemolytic anemia 179
                congenital hemolytic anemia 136
                  congenital dyserythropoietic anemia 9
                    congenital dyserythropoietic anemia type II 1
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