{"orpha":369886,"name":"Homozygous 2p21 microdeletion syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["2p21 contiguous gene deletion syndrome"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-369886/","orphanet_url":"https://www.orpha.net/en/disease/detail/369886","names":{"fr":{"name":"Syndrome de microdélétion 2p21 homozygote","synonyms":["Syndrome de délétion de gènes contigus 2p21"]},"de":{"name":"Mikrodeletionssyndrom 2p21, homozygotes","synonyms":["2p21-Contiguous gene deletion-Syndrom"]},"es":{"name":"Síndrome de microdeleción 2p21 homocigota","synonyms":["Síndrome de deleción de genes contiguos 2p21"]},"it":{"name":"Sindrome da microdelezione 2p21omozigote","synonyms":["Sindrome da delezione di geni contigui 2p21"]},"nl":{"name":"Homozygote 2p21-microdeletiesyndroom","synonyms":["2p21-'contiguous gene'-deletiesyndroom"]},"pt":{"name":"Síndrome de microdeleção 2p21 homozigótica"},"pl":{"name":"Homozygotyczny zespół mikrodelecji 2p21","synonyms":["Zespół delecji przyległych genów 2p21"]},"cs":{"name":"Mikrodeleční syndrom 2p21 homozygotní","synonyms":["2p21 syndrom přilehlých genů"]},"uk":{"name":"Гомозиготний синдром мікроделеції 2p21","synonyms":["Синдром делеції суміжного гена 2р21"]},"zh":{"name":"纯合2p21微缺失综合征","synonyms":["2p21邻近基因缺失综合征"]},"tr":{"name":"Homozigot 2p21 mikrodelesyon sendromu","synonyms":["2p21 bitişik gen delesyon sendromu"]}},"xrefs":[{"source":"MONDO","code":"18246","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261866,"name":"Partial deletion of the short arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[{"orpha":369881,"name":"2p21 microdeletion syndrome without cystinuria","type":"Malformation syndrome"},{"orpha":238517,"name":"Hypotonia-cystinuria type 1 syndrome","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"23794250[PMID]"}],"phenotypes":null}