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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 familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
Synonyms:exact_synonym: Congenital Dyserythropoietic Anemias;   congenital dyshaematopoietic anaemia
 primary_id: MESH:D000742
 alt_id: RDO:0000572
 xref: GARD:1999;   ICD10CM:D64.4;   NCI:C84646;   OMIM:PS224120;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:224120
CTD
ClinVar
PMID:12434312, PMID:16098079 RGD:1600473, RGD:11081155 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
JBrowse link
G Diaph3 diaphanous-related formin 3 ISS MouseDO NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Klf1 Kruppel like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 9:112,293,388...112,451,677
Ensembl chr 9:112,293,388...112,451,677
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:25741868 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Qualifiers 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:12434312, PMID:12825070, PMID:16098079, PMID:16141353, PMID:16754775, PMID:18575862, PMID:20301759, PMID:22407294, PMID:23065504, PMID:25741868, PMID:25741869, PMID:27827297, PMID:28132690, PMID:28492532, PMID:29901818 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO OMIM NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar
PMID:9220189, PMID:16643456, PMID:23716552, PMID:25741868, PMID:29885034, PMID:31191338 NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
ClinVar Annotator: match by term: CDA II
ClinVar
OMIM
PMID:19561605, PMID:19621418, PMID:20015893, PMID:20941788, PMID:21252497, PMID:21850656, PMID:22208203, PMID:22428539, PMID:23453696, PMID:25044164, PMID:25741868, PMID:26522472, PMID:28492532, PMID:29031773, PMID:29901818, PMID:30311386, PMID:32581362 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
congenital dyserythropoietic anemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV ClinVar
OMIM
PMID:1659863, PMID:21055716, PMID:23125034, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275, PMID:19268275 RGD:11344905 NCBI chr 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416
JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin2 lipin 2 ISO ClinVar Annotator: match by OMIM:609628
ClinVar Annotator: match by term: Majeed syndrome
OMIM
ClinVar
PMID:2809904, PMID:10969284, PMID:11795677, PMID:15994876, PMID:17330256, PMID:18409191, PMID:20032092, PMID:20645851, PMID:23087183, PMID:24033266, PMID:25741868, PMID:26386126, PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by OMIM:300367
ClinVar Annotator: match by term: GATA-1-related thrombocytopenia with dyserythropoiesis
ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia
ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.M205V, 613G>A (human)
ClinVar
OMIM
PMID:8628290, PMID:10700180, PMID:11418466, PMID:11566888, PMID:11809723, PMID:15895080, PMID:15920471, PMID:16095949, PMID:16103636, PMID:16783379, PMID:17713552, PMID:17763153, PMID:18041654, PMID:22706301, PMID:23278136, PMID:23704091, PMID:24255919, PMID:24453067, PMID:24766296, PMID:24952648, PMID:25741868, PMID:28492532, PMID:31064749, PMID:32581362, PMID:11675338, PMID:11418466, PMID:10700180 RGD:10450749, RGD:10450743, RGD:10450740 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          congenital hemolytic anemia 134
            congenital dyserythropoietic anemia 9
              Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
              Majeed Syndrome 1
              X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 1
              congenital dyserythropoietic anemia type I + 2
              congenital dyserythropoietic anemia type II 1
              congenital dyserythropoietic anemia type III 0
              congenital dyserythropoietic anemia type IV 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          anemia 409
            normocytic anemia 178
              hemolytic anemia 178
                congenital hemolytic anemia 134
                  congenital dyserythropoietic anemia 9
                    Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
                    Majeed Syndrome 1
                    X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 1
                    congenital dyserythropoietic anemia type I + 2
                    congenital dyserythropoietic anemia type II 1
                    congenital dyserythropoietic anemia type III 0
                    congenital dyserythropoietic anemia type IV 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.