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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 the SEC23B gene 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
 broad_synonym: SEC23B-RELATED CONDITION
 primary_id: MIM:224100
 xref: GARD:2001;   NCI:C175991;   ORDO:98873


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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 Banf2 BANF family member 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,387,107...131,442,837
Ensembl chr 3:151,853,911...151,896,204 		JBrowse link
G Dzank1 double zinc ribbon and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,309,228...152,361,548
Ensembl chr 3:152,309,228...152,361,548 		JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,194,560...152,235,048
Ensembl chr 3:152,194,696...152,235,052 		JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,094,514...152,103,314
Ensembl chr 3:152,094,658...152,103,313 		JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,130,767...152,160,487
Ensembl chr 3:152,130,767...152,160,487 		JBrowse link
G Pet117 PET117 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 Ensembl chr 3:152,189,892...152,194,868 JBrowse link
G Polr3f RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,361,798...152,378,169
Ensembl chr 3:152,361,798...152,378,168 		JBrowse link
G Rbbp9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:152,378,426...152,392,370
Ensembl chr 3:152,378,699...152,385,489 		JBrowse link
G Rrbp1 ribosome binding protein 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:151,768,386...151,830,255
Ensembl chr 3:151,768,386...151,830,255 		JBrowse link
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: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chr 3:152,392,340...152,434,813
Ensembl chr 3:152,392,308...152,434,800 		JBrowse link
G Snx5 sorting nexin 5 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,621,875...131,641,127
Ensembl chr 3:152,075,258...152,094,877 		JBrowse link
G Zfp133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,829,404...131,847,552
Ensembl chr 3:152,282,735...152,300,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital hemolytic anemia 365
        congenital dyserythropoietic anemia 33
          congenital dyserythropoietic anemia type II 12
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          anemia 865
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital dyserythropoietic anemia 33
                    congenital dyserythropoietic anemia type II 12
paths to the root