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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 2:120,546,635...120,561,998
Ensembl chr 2:120,546,635...120,680,609 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:115,411,388...115,609,263
Ensembl chr 2:115,412,197...115,609,249 		JBrowse link
G Diaph3 diaphanous related formin 3 IAGP MouseDO NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671 		JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr15:94,441,495...94,466,198
Ensembl chr15:94,441,524...94,479,696 		JBrowse link
G Kif23 kinesin family member 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:61,824,559...61,854,078
Ensembl chr 9:61,823,187...61,854,056 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Man2a1 mannosidase 2, alpha 1 IAGP OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr17:64,907,683...65,062,105
Ensembl chr17:64,907,731...65,062,105 		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 2:144,398,165...144,432,673
Ensembl chr 2:144,398,149...144,432,669 		JBrowse link
G Ube2q2 ubiquitin-conjugating enzyme E2Q family member 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 9:55,056,602...55,114,813
Ensembl chr 9:55,056,138...55,114,813 		JBrowse link
G Vps4a vacuolar protein sorting 4A ISO ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia ClinVar PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 NCBI chr 8:107,757,901...107,772,392
Ensembl chr 8:107,757,854...107,772,387 		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 2:120,546,635...120,561,998
Ensembl chr 2:120,546,635...120,680,609 		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: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
DNA:missense mutations, nonsense mutations:cds:multiple
DNA:missense mutation:cds:p.R1042W (human)
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:mutations:multiple 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... RGD:1600473, RGD:40903077, RGD:40903076, RGD:40903075 NCBI chr 2:120,546,635...120,561,998
Ensembl chr 2:120,546,635...120,680,609 		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 2:115,411,388...115,609,263
Ensembl chr 2:115,412,197...115,609,249 		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 2:143,875,022...143,915,899
Ensembl chr 2:143,874,979...143,915,899 		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 2:144,312,475...144,369,427
Ensembl chr 2:144,312,477...144,369,334 		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 2:144,210,952...144,249,595
Ensembl chr 2:144,210,903...144,249,596 		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 2:144,112,824...144,123,147
Ensembl chr 2:144,112,583...144,123,147 		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 2:144,147,095...144,174,000
Ensembl chr 2:144,147,095...144,174,066 		JBrowse link
G Pet117 PET117 homolog ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 2:144,210,903...144,215,257
Ensembl chr 2:144,210,916...144,215,641 		JBrowse link
G Polr3f polymerase (RNA) III (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 2:144,369,665...144,383,699
Ensembl chr 2:144,369,638...144,383,915 		JBrowse link
G Rbbp9 retinoblastoma 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 2:144,384,185...144,392,779
Ensembl chr 2:144,384,185...144,392,789 		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 2:143,789,315...143,853,216
Ensembl chr 2:143,789,315...143,853,183 		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 2:144,398,165...144,432,673
Ensembl chr 2:144,398,149...144,432,669 		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 2:144,092,043...144,112,713
Ensembl chr 2:144,092,043...144,112,826 		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 9:61,824,559...61,854,078
Ensembl chr 9:61,823,187...61,854,056 		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 chr15:99,518,377...99,549,504
Ensembl chr15:99,518,377...99,549,537 		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-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: CDA, TYPE IVa ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) 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 chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
congenital dyserythropoietic anemia type IVb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel-like transcription factor 1 (erythroid) 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 chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		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 2:152,596,093...152,606,957
Ensembl chr 2:152,596,093...152,606,957 		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 chr17:71,559,167...71,618,551
Ensembl chr17:71,559,167...71,618,973 		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 chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812 		JBrowse link
G Myl12a myosin, light chain 12A, regulatory, non-sarcomeric ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,300,788...71,309,528
Ensembl chr17:71,300,651...71,309,873 		JBrowse link
G Myl12b myosin, light chain 12B, regulatory ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,280,958...71,297,511
Ensembl chr17:71,280,128...71,297,885 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		JBrowse link
G Smchd1 SMC hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541 		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:9536098 PMID:10700180 PMID:11418466 More... RGD:10450740, RGD:10450743, RGD:10450749 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		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:162,719,268...162,741,662
Ensembl chr  X:162,718,439...162,741,657 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    physical disorder 5251
      congenital hemolytic anemia 378
        congenital dyserythropoietic anemia 32
          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 11
          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 16271
    disease of anatomical entity 15863
      Hemic and Lymphatic Diseases 4281
        hematopoietic system disease 3794
          anemia 875
            normocytic anemia 770
              hemolytic anemia 447
                congenital hemolytic anemia 378
                  congenital dyserythropoietic anemia 32
                    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 11
                    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