{"orpha":263720,"name":"X chromosome number anomaly with male phenotype syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-263720/","orphanet_url":"https://www.orpha.net/en/disease/detail/263720","names":{"fr":{"name":"Syndrome d'anomalie du nombre de chromosome x avec phénotype masculin"},"de":{"name":"Chromosom X-Anomalie, numerische , männlicher Phänotyp"},"es":{"name":"Síndrome de anomalía numérica del cromosoma X con fenotipo masculino"},"it":{"name":"Sindrome anomalia numerica del cromosoma X con fenotipo maschile"},"nl":{"name":"Numerieke anomalie van X chromosoom met mannelijk fenotype-syndroom"},"pt":{"name":"Anomalia no número de cromossomas X com fenótipo masculino"},"pl":{"name":"Zespół aberracji liczbowej chromosomu X z fenotypem męskim"},"cs":{"name":"Anomálie počtu chromozomů X s mužským fenotypem"},"uk":{"name":"Аномалія кількості Х-хромосом з чоловічим фенотипом"},"zh":{"name":"X染色体数目异常伴男性表型"},"tr":{"name":"Erkek fenotipi ile X kromozom sayısı anomalisi"}},"xrefs":[{"source":"MONDO","code":"17001","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263714,"name":"X chromosome number anomaly syndrome","classifications":[147,156]}],"children":[{"orpha":96263,"name":"48,XXXY syndrome","type":"Malformation syndrome"},{"orpha":96264,"name":"49,XXXXY syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}