{"orpha":281238,"name":"Autosomal ichthyosis syndrome with prominent neurologic signs","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-281238/","orphanet_url":"https://www.orpha.net/en/disease/detail/281238","names":{"fr":{"name":"Ichtyose syndromique autosomique avec signes neurologiques prédominants"},"de":{"name":"Ichthyose-Syndrom, autosmales, mit prominenten neurologischen Symptomen"},"es":{"name":"Síndrome de ictiosis autosómica con signos neurológicos predominantes"},"it":{"name":"Ittiosi sindromica autosomica con segni neurologici prominenti"},"nl":{"name":"Autosomale ichthyosis-syndroom met opvallende neurologische tekenen"},"pt":{"name":"Síndrome ictiose autossómica com sinais neurológicos prominentes"},"pl":{"name":"Autosomalny zespół rybiej łuski ze znacznymi objawami neurologicznymi"},"cs":{"name":"Autozomálně dědičné syndromy s ichtyózou a dominujícími neurologickými znaky"},"uk":{"name":"Синдром аутосомного іхтіозу з вираженими неврологічними ознаками"},"zh":{"name":"伴有明显神经系统体征的常染色体遗传鱼鳞病综合征"},"tr":{"name":"Belirgin nörolojik bulgular ile seyreden otozomal iktiyoz sendromu"}},"xrefs":[{"source":"MONDO","code":"17272","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681025","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281217,"name":"Autosomal ichthyosis syndrome","classifications":[156,187]}],"children":[{"orpha":773,"name":"Adult Refsum disease","type":"Disease"},{"orpha":352333,"name":"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome","type":"Disease"},{"orpha":2271,"name":"Congenital ichthyosis-microcephalus-tetraplegia syndrome","type":"Disease"},{"orpha":2269,"name":"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome","type":"Disease"},{"orpha":171851,"name":"MEDNIK syndrome","type":"Disease"},{"orpha":2671,"name":"Neu-Laxova syndrome","type":"Malformation syndrome"},{"orpha":816,"name":"Sjögren-Larsson syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}