{"orpha":137905,"name":"Syndromic optic nerve hypoplasia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-137905/","orphanet_url":"https://www.orpha.net/en/disease/detail/137905","names":{"fr":{"name":"Hypoplasie syndromique du nerf optique"},"de":{"name":"Sehnerv-Hypoplasie, syndromale"},"es":{"name":"Hipoplasia sindrómica del nervio óptico"},"it":{"name":"Ipoplasia sindromica del nervo ottico"},"nl":{"name":"Syndromale hypoplasie van oogzenuw","synonyms":["Syndromale hypoplasie van nervus opticus"]},"pt":{"name":"Hipoplasia do nervo óptico sindromática"},"pl":{"name":"Syndromiczna hipoplazja nerwu wzrokowego"},"cs":{"name":"Syndromická hypoplázie optického nervu"},"uk":{"name":"Синдромальна гіпоплазія зорового нерва"},"zh":{"name":"综合征性视神经发育不全"},"tr":{"name":"Sendromik optik sinir hipoplazisi"}},"xrefs":[{"source":"MONDO","code":"15310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680629","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19888","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":522512,"name":"Rare genetic optic nerve disorder","classifications":[156]},{"orpha":519351,"name":"Rare optic nerve disorder","classifications":[189]}],"children":[{"orpha":603494,"name":"Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome","type":"Malformation syndrome"},{"orpha":250972,"name":"Polymicrogyria with optic nerve hypoplasia","type":"Malformation syndrome"},{"orpha":3157,"name":"Septo-optic dysplasia spectrum","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}