{"orpha":98555,"name":"Microphthalmia-anophthalmia-coloboma","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Anophthalmia-microphthalmia 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-98555/","orphanet_url":"https://www.orpha.net/en/disease/detail/98555","names":{"fr":{"name":"Microphtalmie-anophtalmie-colobome","synonyms":["Anophtalmie-microphtalmie","Spectre microphtalmie-anophtalmie-colobome"]},"de":{"name":"Mikrophthalmie-Anophthalmie-Kolobom"},"es":{"name":"Microftalmia-anoftalmia-coloboma"},"it":{"name":"Anoftalmia - microftalmia"},"nl":{"name":"Anoftalmie - microftalmie-syndroom"},"pt":{"name":"Anoftalmia - microftalmia"},"pl":{"name":"Anoftalmia - mikroftalmia","synonyms":["Anophthalmia-microphthalmia syndrome"]},"cs":{"name":"Syndromy zahrnující anoftalmii a mikroftalmii","synonyms":["Anophthalmia-microphthalmia syndrome"]},"uk":{"name":"Мікрофтальм-анофтальм-колобома","synonyms":["Синдром анофтальмії-мікрофтальмії"]},"zh":{"name":"小眼-无眼-缺损","synonyms":["无眼-小眼综合征"]},"tr":{"name":"Mikroftalmi-anoftalmi-kolobom","synonyms":["Anoftalmi-mikroftalmi sendromu"]}},"xrefs":[{"source":"UMLS","code":"C5680330","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519272,"name":"Structural developmental eye defect","classifications":[147,189]},{"orpha":522536,"name":"Structural developmental eye defect of genetic origin","classifications":[156]}],"children":[{"orpha":2542,"name":"Isolated microphthalmia-anophthalmia-coloboma","type":"Clinical group"},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.3,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.9,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.8,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":36.4,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.3,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.7,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.9,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.1,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.1,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.4,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.3,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.9,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.2,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.0,"area":"United States","status":"Validated","source":"8921488[PMID]_8179669[PMID]_16007635[PMID]_Center for Diseases Control and Prevention 2004-2006[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"United States","status":"Validated","source":"8921488[PMID]_8179669[PMID]_16007635[PMID]_Center for Diseases Control and Prevention 2004-2006[OTHER]"}],"phenotypes":null}