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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 17129
    physical disorder 3071
      congenital hemolytic anemia 153
        congenital dyserythropoietic anemia 10
          congenital dyserythropoietic anemia type IV 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Hemic and Lymphatic Diseases 2218
        hematopoietic system disease 1797
          anemia 427
            normocytic anemia 200
              hemolytic anemia 200
                congenital hemolytic anemia 153
                  congenital dyserythropoietic anemia 10
                    congenital dyserythropoietic anemia type IV 1
paths to the root