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Metadata
ID	DOID:0051001
Name	congenital dyserythropoietic anemia type IIIb
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/
Xrefs	MIM:619789
Parent Relationships	is_a congenital dyserythropoietic anemia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance