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Ontology Browser

Term:
congenital dyserythropoietic anemia (DOID:1338)
Annotations: Rat: (9) Mouse: (9) Human: (11) Chinchilla: (7) Bonobo: (7) Dog: (7) Squirrel: (7) Pig: (7)
Parent Terms Term With Siblings Child Terms
congenital dyserythropoietic anemia +   
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.
Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 
congenital nonspherocytic hemolytic anemia +   
dehydrated hereditary stomatocytosis +   
glucosephosphate dehydrogenase deficiency +   
hemoglobinopathy +   
hereditary elliptocytosis +   
hereditary spherocytosis +   
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
overhydrated hereditary stomatocytosis  
Red Cell Phospholipid Defect with Hemolysis 
Rh-Null Disease, Amorph Type  
sickle cell anemia +   
Stomatocytosis II  
thalassemia +   
Transient Erythroblastopenia of Childhood 
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to  
X-linked congenital hemolytic anemia  

Synonyms
Exact Synonyms: Congenital Dyserythropoietic Anemias ;   congenital dyshaematopoietic anaemia
Primary IDs: MESH:D000742
Alternate IDs: RDO:0000572
Xrefs: GARD:1999 ;   ICD10CM:D64.4 ;   NCI:C84646 ;   OMIM:PS224120 ;   ORDO:85
Definition Sources: http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia "DO", http://www.ncbi.nlm.nih.gov/books/NBK5313/ "DO", MESH:D000742

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