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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
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Accession:DOID:1338 term browser browse the term
Definition:A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. (DO)
Synonyms:exact_synonym: Congenital Dyserythropoietic Anemias;   congenital dyshaematopoietic anaemia
 broad_synonym: syndromic congenital hemolytic and dyserythropoietic anemia
 primary_id: MESH:D000742
 xref: GARD:1999;   ICD10CM:D64.4;   NCI:C84646;   OMIM:PS224120;   ORDO:85
For additional species annotation, visit the Alliance of Genome Resources.

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congenital dyserythropoietic anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar NCBI chrNW_004624804:9,827,372...9,839,249
Ensembl chrNW_004624804:9,827,889...9,839,215 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624804:3,881,789...4,199,472
Ensembl chrNW_004624804:3,881,189...4,121,527 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO MouseDO NCBI chrNW_004624748:20,937,242...21,439,554
Ensembl chrNW_004624748:21,045,085...21,383,605 		JBrowse link
G Irak4 interleukin 1 receptor associated kinase 4 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chrNW_004624816:8,783,075...8,808,734
Ensembl chrNW_004624816:8,778,299...8,802,883 		JBrowse link
G Kif23 kinesin family member 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624781:4,048,997...4,074,836
Ensembl chrNW_004624781:4,048,902...4,073,257 		JBrowse link
G Klf1 KLF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624901:467,937...471,917
Ensembl chrNW_004624901:468,662...471,500 		JBrowse link
G Man2a1 mannosidase alpha class 2A member 1 ISO OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chrNW_004624743:27,607,094...27,791,612 JBrowse link
G Sec23b SEC23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:19561605 PMID:24033266 PMID:25044164 PMID:25741868 PMID:28492532 NCBI chrNW_004624741:19,222,584...19,255,400
Ensembl chrNW_004624741:19,222,628...19,259,735 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chrNW_004624894:2,179,617...2,233,800
Ensembl chrNW_004624894:2,179,617...2,233,855 		JBrowse link
G Vps4a vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia ClinVar PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 NCBI chrNW_004624746:17,044,173...17,059,295
Ensembl chrNW_004624746:17,047,519...17,054,738 		JBrowse link
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... NCBI chrNW_004624804:9,827,372...9,839,249
Ensembl chrNW_004624804:9,827,889...9,839,215 		JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia OMIM
ClinVar		 PMID:9536098 PMID:12434312 PMID:16098079 PMID:17576681 PMID:18081704 More... NCBI chrNW_004624804:9,827,372...9,839,249
Ensembl chrNW_004624804:9,827,889...9,839,215 		JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib OMIM
ClinVar		 PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624804:3,881,789...4,199,472
Ensembl chrNW_004624804:3,881,189...4,121,527 		JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3f RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:28492532 NCBI chrNW_004624741:19,196,639...19,213,252
Ensembl chrNW_004624741:19,196,605...19,210,403 		JBrowse link
G Rbbp9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:28492532 NCBI chrNW_004624741:19,214,436...19,222,511
Ensembl chrNW_004624741:19,214,536...19,222,530 		JBrowse link
G Sec23b SEC23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: HEMPAS anemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chrNW_004624741:19,222,584...19,255,400
Ensembl chrNW_004624741:19,222,628...19,259,735 		JBrowse link
congenital dyserythropoietic anemia type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004624781:4,048,997...4,074,836
Ensembl chrNW_004624781:4,048,902...4,073,257 		JBrowse link
Congenital Dyserythropoietic Anemia Type IIIb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Racgap1 Rac GTPase activating protein 1 ISO ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive OMIM
ClinVar		 PMID:34818416 PMID:36200420 NCBI chrNW_004624816:2,268,879...2,303,305
Ensembl chrNW_004624816:2,273,856...2,303,375 		JBrowse link
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 chrNW_004624901:474,836...479,674
Ensembl chrNW_004624901:475,073...479,292 		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 chrNW_004624901:467,937...471,917
Ensembl chrNW_004624901:468,662...471,500 		JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101714003 cytochrome c oxidase subunit 4 isoform 2, mitochondrial ISO ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis OMIM
ClinVar		 PMID:19268275 PMID:25741868 PMID:28492532 NCBI chrNW_004624741:852,104...863,660
Ensembl chrNW_004624741:850,551...861,313 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chrNW_004624770:13,133,319...13,156,420 JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome OMIM
ClinVar		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chrNW_004624770:13,158,111...13,200,818
Ensembl chrNW_004624770:13,159,903...13,203,643 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004624770:13,378,668...13,408,633
Ensembl chrNW_004624770:13,393,106...13,409,139
Ensembl chrNW_004624770:13,393,106...13,409,139 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chrNW_004624770:13,000,532...13,123,346
Ensembl chrNW_004624770:13,000,316...13,124,031 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chrNW_004624770:13,506,501...13,515,388
Ensembl chrNW_004624770:13,508,409...13,516,457 		JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia OMIM
ClinVar		 PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More... NCBI chrNW_004624893:595,948...602,980
Ensembl chrNW_004624893:595,967...602,979 		JBrowse link
G Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chrNW_004624829:578,380...605,119
Ensembl chrNW_004624829:578,326...604,594 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    physical disorder 4599
      congenital hemolytic anemia 290
        congenital dyserythropoietic anemia 23
          Congenital Dyserythropoietic Anemia Type IIIb 1
          Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
          Majeed Syndrome 6
          X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
          congenital dyserythropoietic anemia type I + 2
          congenital dyserythropoietic anemia type II 3
          congenital dyserythropoietic anemia type III 1
          congenital dyserythropoietic anemia type IV 2
Path 2
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      Hemic and Lymphatic Diseases 3359
        hematopoietic system disease 2906
          anemia 670
            normocytic anemia 575
              hemolytic anemia 347
                congenital hemolytic anemia 290
                  congenital dyserythropoietic anemia 23
                    Congenital Dyserythropoietic Anemia Type IIIb 1
                    Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
                    Majeed Syndrome 6
                    X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
                    congenital dyserythropoietic anemia type I + 2
                    congenital dyserythropoietic anemia type II 3
                    congenital dyserythropoietic anemia type III 1
                    congenital dyserythropoietic anemia type IV 2
paths to the root