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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;   MIM:PS224120;   NCI:C84646;   ORDO:85
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 ClinVar
CTD
RGD		 PMID:16098079 RGD:11081155 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682 		JBrowse link
G Diaph3 diaphanous-related formin 3 ISS MouseDO NCBI chr15:68,951,992...69,421,623
Ensembl chr15:62,543,375...63,012,975 		JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 7:127,561,777...127,588,762
Ensembl chr 7:125,682,488...125,717,837 		JBrowse link
G Kif23 kinesin family member 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072 		JBrowse link
G Klf1 KLF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 9:104,252,001...104,408,349
Ensembl chr 9:104,252,001...104,408,349 		JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia		 CTD
ClinVar		 PMID:19561605 PMID:24033266 PMID:25044164 PMID:25741868 PMID:28492532 NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489 		JBrowse link
G Ube2q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212 		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 chr19:34,934,999...34,948,888
Ensembl chr19:34,934,961...34,948,887 		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 chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		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 DNA:missense mutations, nonsense mutations:cds:multiple
ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
DNA:missense mutation:cds:p.R1042W (human)
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:mutations:multiple		 ClinVar
OMIM
RGD		 PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... RGD:1600473, RGD:40903077, RGD:40903076, RGD:40903075 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773 		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 | ClinVar Annotator: match by term: CDIN1-related condition OMIM
ClinVar		 PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:28492532 More... NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682 		JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf2 BANF family member 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,387,107...131,442,837
Ensembl chr 3:131,388,130...131,442,832 		JBrowse link
G Dzank1 double zinc ribbon and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,855,890...131,908,217
Ensembl chr 3:131,852,552...131,908,156 		JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706 		JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932 		JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,677,391...131,707,123
Ensembl chr 3:131,677,391...131,708,359 		JBrowse link
G Pet117 PET117 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532
G Polr3f RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,908,466...131,924,838
Ensembl chr 3:131,908,466...131,924,837 		JBrowse link
G Rbbp9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,925,095...131,939,042
Ensembl chr 3:131,925,341...131,932,156 		JBrowse link
G Rrbp1 ribosome binding protein 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,314,996...131,376,930
Ensembl chr 3:131,314,998...131,376,981 		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: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE | ClinVar Annotator: match by term: HEMPAS anemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489 		JBrowse link
G Snx5 sorting nexin 5 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,621,875...131,641,127
Ensembl chr 3:131,621,880...131,641,192 		JBrowse link
G Zfp133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 3:131,829,404...131,847,552
Ensembl chr 3:131,829,404...131,847,550 		JBrowse link
congenital dyserythropoietic anemia type IIIa 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 chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072 		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 | ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive OMIM
ClinVar		 PMID:34818416 PMID:36200420 NCBI chr 7:130,750,936...130,780,891
Ensembl chr 7:130,750,936...130,780,831 		JBrowse link
congenital dyserythropoietic anemia type IVa 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: CDA, TYPE IVa ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr19:40,168,038...40,174,536
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN | ClinVar Annotator: match by term: CDA, TYPE IVa | 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
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
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO DNA:mutation:cds:c.412G>A (p.E138K)(human)
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr 3:161,686,193...161,699,605
Ensembl chr 3:141,228,443...141,239,331 		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 chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Majeed syndrome		 OMIM
CTD
ClinVar		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		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 chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:110,720,921...110,757,802 		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 DNA:missense mutation: :p.M205V, 613G>A (human)
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)
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
RGD		 PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More... RGD:10450740, RGD:10450743, RGD:10450749 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:14,529,702...14,537,530 		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 chr  X:30,547,424...30,571,613
Ensembl chr  X:30,547,536...30,570,125 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    physical disorder 5201
      congenital hemolytic anemia 365
        congenital dyserythropoietic anemia 33
          Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
          Majeed Syndrome 7
          X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
          congenital dyserythropoietic anemia type I + 2
          congenital dyserythropoietic anemia type II 12
          congenital dyserythropoietic anemia type IIIa 1
          congenital dyserythropoietic anemia type IIIb 1
          congenital dyserythropoietic anemia type IVa 2
          congenital dyserythropoietic anemia type IVb 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Hemic and Lymphatic Diseases 4326
        hematopoietic system disease 3835
          anemia 865
            normocytic anemia 755
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital dyserythropoietic anemia 33
                    Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
                    Majeed Syndrome 7
                    X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
                    congenital dyserythropoietic anemia type I + 2
                    congenital dyserythropoietic anemia type II 12
                    congenital dyserythropoietic anemia type IIIa 1
                    congenital dyserythropoietic anemia type IIIb 1
                    congenital dyserythropoietic anemia type IVa 2
                    congenital dyserythropoietic anemia type IVb 1
paths to the root