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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 the KLF1 gene on chromosome 19p13.13. (DO)
Synonyms:exact_synonym: CDA IV;   CDA due to KLF1 mutation;   CDA type 4;   CDA, type IV;   CDAN4;   KLF1-RELATED CONDITION;   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


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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 Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV | ClinVar Annotator: match by term: KLF1-related condition OMIM
ClinVar		 PMID:1659863 PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 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 21128
    physical disorder 4950
      congenital hemolytic anemia 347
        congenital dyserythropoietic anemia 24
          congenital dyserythropoietic anemia type IV 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Hemic and Lymphatic Diseases 3854
        hematopoietic system disease 3344
          anemia 778
            normocytic anemia 416
              hemolytic anemia 416
                congenital hemolytic anemia 347
                  congenital dyserythropoietic anemia 24
                    congenital dyserythropoietic anemia type IV 2
paths to the root