congenital dyserythropoietic anemia type IIIb

Term ID

DOID:0051001

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/36200420/

References

• MIM:619789

Ontology

Human Disease   ( DOID:0051001 )