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

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
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;   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.


show annotations for term's descendants           Sort by:
 
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 Annotator: match by term: HEMPAS anemia
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:30311386, 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 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          congenital hemolytic anemia 134
            congenital dyserythropoietic anemia 9
              congenital dyserythropoietic anemia type II 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1645
          anemia 409
            normocytic anemia 178
              hemolytic anemia 178
                congenital hemolytic anemia 134
                  congenital dyserythropoietic anemia 9
                    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.