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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 IVb
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Accession:DOID:0051002 term browser browse the term
Definition:A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO)
Synonyms:exact_synonym: CDA, type IVb;   CDAN4B
 xref: MIM:620969


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congenital dyserythropoietic anemia type IVb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IVb | ClinVar Annotator: match by term: CDA, TYPE IVb ClinVar
OMIM		 PMID:18487511 PMID:24443441 PMID:25724378 PMID:28361594 PMID:28492532 More... NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    physical disorder 5203
      congenital hemolytic anemia 365
        congenital dyserythropoietic anemia 33
          congenital dyserythropoietic anemia type IVb 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      Hemic and Lymphatic Diseases 4334
        hematopoietic system disease 3842
          anemia 866
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital dyserythropoietic anemia 33
                    congenital dyserythropoietic anemia type IVb 1
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