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genes on chromosome 5q.\" [url:https\\://www.ncbi.nlm.nih.gov/pubmed/18202658, url:https\\://www.ncbi.nlm.nih.gov/pubmed/19898489, url:https\\://www.ncbi.nlm.nih.gov/pubmed/25920683]","descendants":[],"doid":"DOID:0090016","name":"chromosome 5q deletion syndrome","parents":["DOID:0060388"],"synonyms":{"exact":["5q- syndrome, refractory macrocytic anemia due to 5q deletion","myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"]},"xrefs":{"gard":"10840","icd10":"D46.7","mesh":"C535323","mim":"153550","ordo":"86841"}},"hpo":[{"clinical_course":{"biocuration":{"date":"2021-07-14","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0003584","hpo_name":"Late onset","original_disease_id":"OMIM:153550","pmid_refs":"PMID:7949083"},"disease_name":"Chromosome 5q deletion syndrome","inheritance":[{"biocuration":[{"date":"2010-06-19","name":"HPO:skoehler"},{"date":"2021-07-14","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0001442","hpo_name":"Typified by 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syndrome associated with isolated del(5q) chromosome abnormality","orphanet":"86841","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002863","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001877","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001894","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001972","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0012133","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0012143","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0025435","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0031020","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0031385","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001882","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001892","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004808","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0005528","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011273","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011992","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012129","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012148","orphanet_refs":"orphanet:86841"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0031035","orphanet_refs":"orphanet:86841"}]}],"mondo":{"ancestors":["MONDO:0020049","MONDO:7770009","MONDO:0000761","MONDO:0000001","MONDO:0045024","MONDO:0005570","MONDO:0002334","MONDO:0018881","MONDO:7770008","MONDO:0016904","MONDO:0700012","MONDO:0005070","MONDO:0021058","MONDO:7770006","MONDO:0023370","MONDO:0002280","MONDO:0700096","MONDO:0002281","MONDO:0016870","MONDO:0003847","MONDO:0019040","MONDO:0015756","MONDO:0002254"],"definition":"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) [NCIT:P378]","has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/10387"]},"label":"myelodysplastic syndrome associated with isolated del(5q)","mondo":"MONDO:0007925","parents":["MONDO:0002281","MONDO:0003847","MONDO:0016904","MONDO:0018881"],"synonym":{"exact":["5Q minus syndrome","5Q- syndrome","5q- syndrome","5q- syndrome, refractory macrocytic anaemia due to 5q deletion","chromosome 5q deletion syndrome","macrocytic anemia, refractory, due to 5q deletion, somatic","myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality","myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality","myelodysplastic syndrome with 5q deletion","myelodysplastic syndrome with isolated del(5q)"],"related":["5q deletion syndrome","5q syndrome","MAR","refractory macrocytic anaemia due to 5q deletion","refractory macrocytic anemia due to 5q deletion"]},"xrefs":{"doid":["DOID:0090016"],"gard":["0008723"],"icd10cm":["D46.C"],"icd11":["foundation:420472577"],"icdo":["9986/3"],"medgen":["226950"],"mesh":["C535323"],"ncit":["C6867"],"omim":["153550"],"orphanet":["86841"],"sctid":["277597005"],"umls":["C1292779"]}},"original_id":["orphanet:86841","UMLS:C1292779"],"umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"non-preferred":"D46.C"},"icd9cm":{"non-preferred":"238.74"},"mesh":{"non-preferred":"C535323"},"nci":{"non-preferred":"C6867","preferred":"C6867"},"snomed":{"non-preferred":["277597005","128837000"],"preferred":["277597005","128837000"]},"umls":"C1292779"}}