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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 ClinVar NCBI chr 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:134,301,076...134,538,874
Ensembl chr 1:134,301,103...134,538,461 		JBrowse link
G DIAPH3 diaphanous related formin 3 ISO MouseDO NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844 		JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 5:74,842,184...74,858,125
Ensembl chr 5:74,834,600...74,859,344 		JBrowse link
G KIF23 kinesin family member 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:167,239,973...167,281,250
Ensembl chr 1:167,239,997...167,281,245 		JBrowse link
G KLF1 KLF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517 		JBrowse link
G MAN2A1 mannosidase alpha class 2A member 1 ISO OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 2:114,675,786...114,853,133
Ensembl chr 2:114,675,917...114,855,548 		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 chr17:26,760,048...26,801,091
Ensembl chr17:26,760,046...26,801,665 		JBrowse link
G UBE2Q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 7:56,084,017...56,144,915
Ensembl chr 7:56,084,072...56,144,916 		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 chr 6:17,657,792...17,669,560
Ensembl chr 6:17,654,638...17,669,841 		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 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554 		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 OMIM
ClinVar		 PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... NCBI chr 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554 		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 1:134,301,076...134,538,874
Ensembl chr 1:134,301,103...134,538,461 		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 chr17:26,138,520...26,175,665
Ensembl chr17:26,131,001...26,176,393 		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 chr17:26,651,159...26,719,208
Ensembl chr17:26,651,161...26,719,492 		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 chr17:26,484,957...26,521,532
Ensembl chr17:26,485,157...26,521,525 		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 chr17:26,381,561...26,395,201
Ensembl chr17:26,369,875...26,395,192 		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 chr17:26,417,793...26,451,707
Ensembl chr17:26,417,795...26,451,928 		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 chr17:26,479,411...26,485,552
Ensembl chr17:26,480,898...26,485,325 		JBrowse link
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 chr17:26,719,339...26,737,635
Ensembl chr17:26,719,514...26,737,626 		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 chr17:26,740,559...26,749,698
Ensembl chr17:26,736,526...26,760,242 		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 chr17:26,054,777...26,120,254
Ensembl chr17:26,054,779...26,120,197 		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 chr17:26,760,048...26,801,091
Ensembl chr17:26,760,046...26,801,665 		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 chr17:26,352,945...26,381,677
Ensembl chr17:26,352,949...26,381,670 		JBrowse link
G ZNF133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr17:26,595,577...26,620,442
Ensembl chr17:26,595,818...26,625,276 		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 1:167,239,973...167,281,250
Ensembl chr 1:167,239,997...167,281,245 		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 5:15,894,314...15,943,619
Ensembl chr 5:15,904,712...15,943,609 		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 chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		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 chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517 		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 chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517 		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 ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome OMIM
ClinVar		 PMID:19268275 PMID:25741868 PMID:28492532 NCBI chr17:35,340,499...35,346,090
Ensembl chr17:35,341,889...35,346,090 		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 6:103,730,618...103,786,921
Ensembl chr 6:103,730,626...103,786,927 		JBrowse link
G LOC733637 myosin regulatory light chain 2 protein ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,413,841...103,424,790
Ensembl chr 6:103,409,717...103,420,286 		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 chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297 		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 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 6:103,226,395...103,234,591
Ensembl chr 6:103,226,402...103,234,610 		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:9536098 PMID:10700180 PMID:11418466 More... NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		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:12,336,635...12,365,071
Ensembl chr  X:12,336,677...12,367,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15438
    physical disorder 5075
      congenital hemolytic anemia 350
        congenital dyserythropoietic anemia 32
          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 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 15438
    disease of anatomical entity 15107
      Hemic and Lymphatic Diseases 4094
        hematopoietic system disease 3635
          anemia 825
            normocytic anemia 721
              hemolytic anemia 414
                congenital hemolytic anemia 350
                  congenital dyserythropoietic anemia 32
                    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 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