{"orpha":1474,"name":"Colobomatous-microphthalmia-heart disease-hearing loss syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Hittner-Hirsch-Kreh syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to CHARGE syndrome","url":"https://raremap.alftech.space/d/ORPHA-1474/","orphanet_url":"https://www.orpha.net/en/disease/detail/1474","names":{"fr":{"name":"Syndrome de colobome-microphtalmie-cardiopathie-surdité","synonyms":["Syndrome de Hittner-Hirsch-Kreh"]},"de":{"name":"Kolobomatöse Mikrophthalmie - Kardiopathie - Schwerhörigkeit","synonyms":["Hittner-Hirsch-Kreh-Syndrom"]},"es":{"name":"Síndrome de coloboma-microftalmia-cardiopatía-hipoacusia","synonyms":["Síndrome de Hittner-Hirsch-Kreh"]},"it":{"name":"Coloboma - microftalmia - cardiopatia - sordità","synonyms":["Sindrome di Hittner-Hirsch-Kreh"]},"nl":{"name":"Coloboom - microftalmie - hartziekte - gehoorverlies-syndroom","synonyms":["Syndroom van Hittner-Hirsch-Kreh"]},"pt":{"name":"Síndrome de microftalmia colobomatosa-cardiopatia-perda auditiva","synonyms":["Síndrome Hittner-Hirsch-Kreh"]},"pl":{"name":"Małoocze szczelinowate - choroba serca - utrata słuchu","synonyms":["Zespół Hittnera, Hirscha i Kreha"]},"cs":{"name":"Syndrom zahrnující kolobom, mikroftalmii, srdeční vadu a ztrátu sluchu","synonyms":["Hittnerův-Hirschův-Krehův syndrom","Hittner-Hirsch-Krehův syndrom"]},"uk":{"name":"Синдром колобоматозу-мікрофтальмія-серцево-судинних захворювань-втрати слуху","synonyms":["Синдром Хіттнера-Хірша-Креха"]},"zh":{"name":"眼底缺损-小眼球-心脏病-听力丧失综合征","synonyms":["Hittner-Hirsch-Kreh 综合征"]},"tr":{"name":"Kolobomatöz-mikroftalmi-kalp hastalığı-işitme kaybı sendromu","synonyms":["Hittner-Hirsch-Kreh sendromu"]}},"xrefs":[{"source":"UMLS","code":"C2931818","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":138,"name":"CHARGE syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}