{"orpha":1102,"name":"Anophthalmia-hypothalamo-pituitary insufficiency syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["14q22 microdeletion syndrome","Al Frayh-Facharzt-Haque syndrome","Monosomy 14q22"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum","url":"https://raremap.alftech.space/d/ORPHA-1102/","orphanet_url":"https://www.orpha.net/en/disease/detail/1102","names":{"fr":{"name":"Syndrome d'anophtalmie-insuffisance hypothalamo-hypophysaire","synonyms":["Microdélétion 14q22","Monosomie 14q22","Syndrome d'Al Frayh-Facharzt-Haque"]},"de":{"name":"Anophthalmie mit Hypothalamus-Hypophysen-Insuffizienz","synonyms":["Al Frayh-Facharzt-Haque-Syndrom","Mikrodeletionssyndrom 14q22","Monosomie 14q22"]},"es":{"name":"Síndrome de anoftalmia-insuficiencia hipotálamo-pituitaria","synonyms":["Monosomía 14q22","Síndrome de Al Frayh-Facharzt-Haque","Síndrome de Al frayh facharzt haque","Síndrome de microdeleción 14q22"]},"it":{"name":"Anoftalmia - insufficienza ipotalamo-ipofisaria","synonyms":["Monosomia 14q22","Sindrome da microdelezione 14q22","Sindrome di Al Frayh-Facharzt-Haque"]},"nl":{"name":"Anoftalmie - hypothalamo-hypofysaire insufficiëntie-syndroom","synonyms":["Syndroom van Al Frayh-Facharzt-Haque","14q22-microdeletiesyndroom","Monosomie 14q22"]},"pt":{"name":"Síndrome de anoftalmia-insuficiência hipotálamo-hipofisária","synonyms":["Monossomia 14q22","Síndrome Al Frayh-Facharzt-Haque","Síndrome de microdeleção 14q22"]},"pl":{"name":"Bezocze - niedoczynność podwzgórzowo-przysadkowa","synonyms":["Monosomia 14q22","Zespół Al Frayh, Facharzt i Haque","Zespół mikrodelecji 14q22"]},"cs":{"name":"Syndrom zahrnující anoftalmii a hypotalamo-hypofyzární insuficienci","synonyms":["Monozomie 14q22","Mikrodeleční syndrom 14q22","Al Frayhův-Facharztův-Haqueho syndrom","Al Frayh-Facharzt-Haqueho syndrom"]},"uk":{"name":"Синдром анофтальмії-гіпоталамо-гіпофізарної недостатності","synonyms":["Синдром мікроделеції 14q22","Синдром Аль-Фрайха-Фахарца-Хака","Моносомія 14q22"]},"zh":{"name":"无眼畸形-下丘脑-垂体功能减退","synonyms":["Al Frayh-Facharzt-Haque综合征"]},"tr":{"name":"Anoftalmi-hipotalamo-hipofiz yetmezlik sendromu","synonyms":["Monozomi 14q22","14q22 mikrodelesyon sendromu","Al Frayh-Facharzt-Haque sendromu"]}},"xrefs":[],"associations":[{"type":"Moved to","orpha":3157,"name":"Septo-optic dysplasia spectrum"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}