has material basis in germline mutation in RPS14 macrocytic anemia hereditary disease myelodysplastic syndrome associated with isolated del(5q) https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5268 https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/chromosome_5q_deletion_syndrome MEDGEN:226950 MAR chromosome 5q deletion syndrome refractory macrocytic anemia due to 5q deletion SCTID:277597005 DOID:0090016 A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality MONDO:0007925 OMIM:153550 icd11.foundation:420472577 5Q- syndrome 5Q minus syndrome 5q- syndrome, refractory macrocytic anaemia due to 5q deletion 5q- syndrome UMLS:C1292779 GARD:0008723 ICD10CM:D46.C 5q syndrome myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality refractory macrocytic anaemia due to 5q deletion Orphanet:86841 NCIT:C6867 myelodysplastic syndrome with isolated del(5q) myelodysplastic syndrome with 5q deletion MESH:C535323 macrocytic anemia, refractory, due to 5q deletion, somatic 5q deletion syndrome ICDO:9986/3 partial deletion of the long arm of chromosome 5 myelodysplastic syndrome