{"orpha":2998,"name":"Carnevale syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["3MC2 syndrome","Carnevale-Krajewska-Fischetto syndrome","Mingarelli syndrome","OSA syndrome","Oculo-skeletal-abdominal syndrome","Ptosis-strabismus-rectus abdominis diastasis syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3MC syndrome","url":"https://raremap.alftech.space/d/ORPHA-2998/","orphanet_url":"https://www.orpha.net/en/disease/detail/2998","names":{"fr":{"name":"Syndrome de Carnevale","synonyms":["Syndrome 3MC2","Syndrome OSA","Syndrome de Carnevale-Krajewska-Fischetto","Syndrome de Mingarelli","Syndrome de ptosis-strabisme-diastasis des grands droits","Syndrome oculo-squeletto-abdominal"]},"de":{"name":"Carnevale-Syndrom","synonyms":["3MC2-Syndrom","Carnevale-Krajewska-Fischetto-Syndrom","Mingarelli-Syndrom","OSA-Syndrom","Okulo-skeleto-abdominales Syndrom","Ptosis - Strabismus - Rectus abdominis-Diastase"]},"es":{"name":"Síndrome de Carnevale","synonyms":["Ptosis-estrabismo-diástasis del recto abdominal","Síndrome 3MC2","Síndrome OSA","Síndrome de Carnevale-Krajewska-Fischetto","Síndrome de Mingarelli","Síndrome oculo-esquelético-abdominal"]},"it":{"name":"Sindrome di Carnevale","synonyms":["Ptosi - strabismo - diastasi dei retti addominali","Sindrome 3MC2","Sindrome OSA","Sindrome di Carnevale-Krajewska-Fischetto","Sindrome di Mingarelli","Sindrome oculo-scheletro-addominale"]},"nl":{"name":"Syndroom van Carnevale","synonyms":["3MC2-syndroom","OSA-syndroom","Oculo-skeletaal-abdominaal syndroom","Ptose - strabisme - rectus abdominis diastasis-syndroom","Syndroom van Carnevale-Krajewska-Fischetto","Syndroom van Mingarelli"]},"pt":{"name":"Síndrome Carnevale","synonyms":["Síndrome 3MC2","Síndrome Carnevale-Krajewska-Fischetto","Síndrome Mingarelli","Síndrome OSA","Síndrome óculo-esquelético-abdominal"]},"pl":{"name":"Zespół Carnevale","synonyms":["Ptoza - zez - rozstęp mięśni prostych brzucha","Zespół 3MC2","Zespół Carnevale, Krajewskiej i Fischetto","Zespół Mingarelli","Zespół oczno-szkieletowo-brzuszny","Zespół OSA"]},"cs":{"name":"Carnevaleův syndrom","synonyms":["3MC2 syndrom","Mingarelliové syndrom","OSA syndrom","Okuloskeletoabdominální syndrom","Carnevaleův-Krajewské-Fischettův syndrom","Syndrom zahrnující ptózu, strabismus a diastázu břišních svalů","Carnevale-Krajewska-Fischettův syndrom"]},"uk":{"name":"Синдром Карневейла","synonyms":["Синдром 3MC2","Синдром Карневале-Краєвської-Фішетто","Синдром Мінгареллі","Окуло-скелетно-абдомінальний синдром","Синдром OSA","Синдром птозу-косоокості-діастазу прямих мязів живота"]},"zh":{"name":"Carnevale综合征","synonyms":["上睑下垂-斜视-腹直肌分离综合征"]},"tr":{"name":"Carnevale sendromu","synonyms":["OSA sendromu","3MC2 sendromu","Mingarelli sendromu","Okülo-iskelet-abdominal sendrom","Carnevale-Krajewska-Fischetto sendromu","Ptozis-şaşılık-rektus abdominis diastaz sendromu"]}},"xrefs":[{"source":"OMIM","code":"265050","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796279","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":293843,"name":"3MC syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}