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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 IV
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Accession:DOID:0111400 term browser browse the term
Definition:A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in KLF1 on chromosome 19p13.13. (DO)
Synonyms:exact_synonym: CDA IV;   CDA due to KLF1 mutation;   CDA type 4;   CDA, type IV;   CDAN4;   congenital dyserythropoietic anaemia due to KLF1 mutation;   congenital dyserythropoietic anaemia type 4;   congenital dyserythropoietic anaemia type IV;   congenital dyserythropoietic anemia due to KLF1 mutation;   congenital dyserythropoietic anemia, type 4
 primary_id: OMIM:613673
 xref: NCI:C157148;   ORDO:293825
For additional species annotation, visit the Alliance of Genome Resources.


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congenital dyserythropoietic anemia type IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV ClinVar
OMIM
PMID:1659863, PMID:21055716, PMID:23125034, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital hemolytic anemia 133
            congenital dyserythropoietic anemia 8
              congenital dyserythropoietic anemia type IV 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Hemic and Lymphatic Diseases 2046
        hematopoietic system disease 1641
          anemia 405
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 133
                  congenital dyserythropoietic anemia 8
                    congenital dyserythropoietic anemia type IV 1
paths to the root

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