Human genes for chromosome 5q deletion syndrome
Chromosome 5q deletion syndrome [DOID:0090016]
A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.
Synonyms: chromosome 5q deletion syndrome, chromosome 5q deletion disease, chromosome 5q deletion disorder, DOID:0090016, 5q- syndrome, refractory macrocytic anemia due to 5q deletion ...