{"orpha":730721,"name":"Isolated partial colobomatous microphthalmia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730721/","orphanet_url":"https://www.orpha.net/en/disease/detail/730721","names":{"fr":{"name":"Microphtalmie colobomateuse isolée partielle"},"de":{"name":"Isolierte partielle kolobomatöse Mikrophthalmie"},"es":{"name":"Microftalmia colobomatosa parcial aislada"},"it":{"name":"Microftalmia colobomatosa parziale isolata"},"nl":{"name":"Geïsoleerde partiële colobomateuze microftalmie"},"pt":{"name":"Isolated partial colobomatous microphthalmia"},"pl":{"name":"Isolated partial colobomatous microphthalmia"},"cs":{"name":"Isolated partial colobomatous microphthalmia"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98938,"name":"Isolated colobomatous microphthalmia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12503095[PMID]","hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}