Congenital dyserythropoietic anemia, type I
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital dyserythropoietic anemia, type I
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital dyserythropoietic anemia, type III
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital dyserythropoietic anemia, type II
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Erythroid hyperplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hydrops Fetalis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Splenomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Reticulocytosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anisocytosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Poikilocytosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Mild postnatal growth retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Prolonged neonatal jaundice
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anisocyte Measurement
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Reduced activity of N-acetylglucosaminyltransferase II
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Macrocytic dyserythropoietic anemia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Endopolyploidy on chromosome studies of bone marrow
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with active CD of the terminal ileum (CD activity index, CDAI, > 150; n = 14), patients with CD in remission (CDAI < 150 n = 10), first-degree relatives of the CD patients (n = 21) and healthy controls (n = 43) were orally intubated with a catheter allowing occlusion and perfusion of a segment of the proximal jejunum.
|
1426699 |
1992 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Neither deficiency of CD44 nor absence of Colton antigens are general features of CDA because erythrocytes from patients with CDA I, CDA II, CDA III, and two other unclassified CDAs had normal expression of CD44 and normal Colton blood group phenotypes.
|
7507739 |
1994 |
Anemia, Macrocytic
|
0.040 |
Biomarker
|
disease |
BEFREE |
Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors.
|
9255198 |
1997 |
Anemia, Neonatal
|
0.010 |
Biomarker
|
disease |
BEFREE |
Although rare, congenital dyserythropoietic anemia type I should be considered in the differential diagnosis of neonatal anemia.
|
9255198 |
1997 |
Bone Marrow Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors.
|
9255198 |
1997 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Three main types of CDA have been distinguished: CDA I and CDA III, whose loci have been already mapped, and CDA II (MIM 224100), the most frequent among CDAs, which is transmitted as an autosomal recessive trait and is known also as "HEMPAS" (hereditary erythroblast multinuclearity with positive acidified serum).
|
9345103 |
1997 |