{"orpha":137902,"name":"OBSOLETE: Isolated optic nerve hypoplasia/aplasia","type":"Morphological anomaly","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Isolated optic nerve hypoplasia","url":"https://raremap.alftech.space/d/ORPHA-137902/","orphanet_url":"https://www.orpha.net/en/disease/detail/137902","names":{"fr":{"name":"OBSOLETE : Hypoplasie/aplasie isolée du nerf optique"},"de":{"name":"OBSOLET: Sehnerv-Hypoplasie/Aplasie, isolierte"},"es":{"name":"OBSOLETO: Hipoplasia/aplasia aislada del nervio óptico"},"it":{"name":"OBSOLETO: Ipoplasia/aplasia isolata del nervo ottico"},"nl":{"name":"OBSOLEET: Geïsoleerde hypoplasie/aplasie van nervus opticus","synonyms":["OBSOLEET: Geïsoleerde hypoplasie/aplasie van oogzenuw","OBSOLEET: Geïsoleerde opticushypoplasie/-aplasie"]},"pt":{"name":"OBSOLETO: Hipoplasia do nervo óptico isolada/aplasia"},"pl":{"name":"NIEAKTUALNE: Izolowana hipoplazja/aplazja nerwu wzrokowego"},"cs":{"name":"NEAKTUÁLNÍ: Izolovaná hypoplázie optického nervu"},"uk":{"name":"ЗАСТАРІЛО: Ізольована гіпоплазія/аплазія зорового нерва"},"zh":{"name":"孤立性视神经发育不全/不发育","definition":"一种罕见的遗传性视神经疾病，其特征是视神经不同程度的发育不全或视神经、神经节细胞和视网膜中央血管完全缺失导致的视力受损或失明。可能是单侧症状通常且大脑发育正常，或双侧症状伴严重广泛的先天性中枢神经系统畸形。"},"tr":{"name":"İzole optik sinir hipoplazisi / aplazi"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":637061,"name":"Isolated optic nerve hypoplasia"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}