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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 IIIa
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Accession:DOID:0111399 term browser browse the term
Definition:A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene (605064) on chromosome 15q23. (DO)
Synonyms:exact_synonym: CDA type 3A;   CDAN3A;   anaemia with multinucleated erythroblasts;   anemia with multinucleated erythroblasts;   hereditary benign erythroreticulosis
 broad_synonym: CDA III;   CDA type 3;   CDA type III;   CDAN3;   Congenital dyserythropoietic anaemia type 3;   KIF23-related condition;   congenital dyserythropoietic anaemia type III;   congenital dyserythropoietic anemia type 3;   congenital dyserythropoietic anemia type III
 xref: GARD:2002;   MESH:C566285;   MIM:105600;   ORDO:98870

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congenital dyserythropoietic anemia type IIIa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chrNW_004624781:4,048,997...4,074,836
Ensembl chrNW_004624781:4,048,902...4,073,257 		JBrowse link
G G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr26:14,008,717...14,044,272
Ensembl chr26:14,008,633...14,043,710 		JBrowse link
G P KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr 1:167,239,973...167,281,250
Ensembl chr 1:167,239,997...167,281,245 		JBrowse link
G S Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chrNW_004936471:29,154,618...29,177,865
Ensembl chrNW_004936471:29,150,205...29,177,769 		JBrowse link
G D KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr30:33,313,029...33,337,663
Ensembl chr30:33,302,709...33,337,422 		JBrowse link
G B KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531 		JBrowse link
G C Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chrNW_004955450:7,060,240...7,083,818
Ensembl chrNW_004955450:7,060,823...7,082,169 		JBrowse link
G R Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072 		JBrowse link
G M Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr 9:61,824,559...61,854,078
Ensembl chr 9:61,823,187...61,854,056 		JBrowse link
G H KIF23 kinesin family member 23 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 238296
    physical disorder 53316
      congenital hemolytic anemia 3735
        congenital dyserythropoietic anemia 338
          congenital dyserythropoietic anemia type IIIa 10
Path 2
Term Annotations click to browse term
  disease 238296
    disease of anatomical entity 228736
      Hemic and Lymphatic Diseases 46071
        hematopoietic system disease 40880
          anemia 8764
            normocytic anemia 7696
              hemolytic anemia 4391
                congenital hemolytic anemia 3735
                  congenital dyserythropoietic anemia 338
                    congenital dyserythropoietic anemia type IIIa 10
paths to the root