Term Name:	congenital dyserythropoietic anemia type IIIb
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.
Ontology:	Human Disease [DOID:0051001]   ( DOID:0051001 )