{"orpha":714413,"name":"9p23p22.2 microdeletion syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Del(9)(p23)(p22.2)","Deletion 9p23p22.2","Monosomy 9p23p22.2"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714413/","orphanet_url":"https://www.orpha.net/en/disease/detail/714413","names":{"fr":{"name":"Syndrome de microdélétion 9p23p22.2","synonyms":["Del(9)(p23)(p22.2)","Délétion 9p23p22.2","Monosomie 9p23p22.2"]},"de":{"name":"Mikrodeletionssyndrom 9p23p22.2","synonyms":["Del(9)(p23)(p22.2)","Deletion 9p23p22.2","Monosomie 9p23p22.2"]},"es":{"name":"Síndrome de microdeleción 9p23p22.2","synonyms":["Del(9)(p23)(p22.2)","Deleción 9p23p22.2","Monosomía 9p23p22.2"]},"it":{"name":"Sindrome da microdelezione 9p23p22.2","synonyms":["Del(9)(p23)(p22.2)","Delezione 9p23p22.2","Monosomia 9p23p22.2"]},"nl":{"name":"9p23p22.2-microdeletiesyndroom","synonyms":["Del(9)(p23)(p22.2)","Deletie 9p23p22.2","Monosomie 9p23p22.2"]},"pt":{"name":"9p23p22.2 microdeletion syndrome"},"pl":{"name":"Zespół mikrodelecji 9p23p22.2","synonyms":["Del(9)(p23)(p22.2)","Deletion 9p23p22.2","Monosomy 9p23p22.2"]},"cs":{"name":"9p23p22.2 microdeletion syndrome","synonyms":["Del(9)(p23)(p22.2)","Deletion 9p23p22.2","Monosomy 9p23p22.2"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":714404,"name":"Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome","classifications":[147,156,181]},{"orpha":261929,"name":"Partial deletion of the short arm of chromosome 9 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"NFIB","name":"nuclear factor I B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"36756855[PMID]","hgnc":"7785","ensembl":"ENSG00000147862","omim":"600728","loci":["9p23-p22.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}