{"orpha":98949,"name":"Complete cryptophthalmia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Isolated cryptophthalmia","url":"https://raremap.alftech.space/d/ORPHA-98949/","orphanet_url":"https://www.orpha.net/en/disease/detail/98949","names":{"fr":{"name":"Cryptophtalmie complète"},"de":{"name":"Kryptophthalmie, komplette"},"es":{"name":"Criptoftalmia completa"},"it":{"name":"Criptoftalmia completa"},"nl":{"name":"Volledige cryptoftalmie"},"pt":{"name":"Criptoftalmia completa"},"pl":{"name":"Skrytoocze całkowite"},"cs":{"name":"Kompletní kryptoftalmie"},"uk":{"name":"Повна криптофтальмія"},"zh":{"name":"完全隐眼"},"tr":{"name":"Tam kriptoftalmi"}},"xrefs":[{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"162797488"},{"source":"MONDO","code":"0020360","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437887","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":91396,"name":"Isolated cryptophthalmia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"FREM2","name":"FRAS1 related extracellular matrix 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29688405[PMID]","hgnc":"25396","ensembl":"ENSG00000150893","omim":"608945","loci":["13q13.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16352480[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"16352480[PMID]"}],"phenotypes":null}