FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital dyserythropoietic anemia type IIIb ID (Ontology) DOID:0051001 (Human Disease)
Definition A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13.
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 congenital dyserythropoietic anemia type IIIb       2
 for disease ribbon | congenital dyserythropoietic anemia type IIIb       2
 model of | congenital dyserythropoietic anemia type IIIb       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__________
congenital hemolytic anemia              |
 |__congenital dyserythropoietic anemia__|
                                         congenital dyserythropoietic anemia type IIIb  2 rec.
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Is a autosomal recessive disease
congenital dyserythropoietic anemia
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MIM:619789