{"orpha":1838,"name":"Metaphyseal dysplasia without hypotrichosis","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cartilage-hair hypoplasia","url":"https://raremap.alftech.space/d/ORPHA-1838/","orphanet_url":"https://www.orpha.net/en/disease/detail/1838","names":{"fr":{"name":"Dysplasie métaphysaire sans hypotrichose","synonyms":["Hypoplasie type cartilage-cheveux sans hypotrichose"]},"de":{"name":"Dysplasie, metaphysäre, ohne Hypotrichose","synonyms":["Cartilago-Haarhypoplasie-ähnliches Syndrom","Knorpel-Haar-Hypoplasie ähnliche Skelettdysplasie ohne Hypotrichose"]},"es":{"name":"Displasia metafisaria sin hipotricosis"},"it":{"name":"Displasia metafisaria senza ipotricosi","synonyms":["Ipoplasia cartilagine-capelli-simile senza ipotricosi"]},"nl":{"name":"Metafysaire dysplasie zonder hypotrichose","synonyms":["Kraakbeen-haar hypoplasie-achtige skeletdysplasie zonder hypotrichose-syndroom"]},"pt":{"name":"Displasia metafisária sem hipotricose","synonyms":["Displasia óssea-hipoplasia cartilagem-cabelo-like sem hipotricose","Hipoplasia cartilagem-cabelo-like sem hipotricose"]},"pl":{"name":"Dysplazja przynasadowa bez hipotrichozy","synonyms":["Hipoplazja chrząstek i włosów podobna do dysplazji szkieletowej bez hipotrichozy"]},"cs":{"name":"Metafyzární dysplázie bez hypotrichózy","synonyms":["Syndrom zahrnující hypoplastické chrupavky a vlasy a skeletální dysplázii bez hypotrichózy"]},"uk":{"name":"Метафізарна дисплазія без гіпотрихозу","synonyms":["Хрящово-волосяна гіпоплазія, схожа на скелетну дисплазію, без синдрому гіпотрихозу"]},"zh":{"name":"干骺端发育不良不伴毛发稀少","synonyms":["软骨-毛发发育不全样骨骼发育不全不伴少毛综合征"]},"tr":{"name":"Hipotrikoz olmayan metafiz displazisi","synonyms":["Hipotrikoz sendromu olmayan kıkırdak-kıl hipoplazisine benzer iskelet displazisi"]}},"xrefs":[{"source":"OMIM","code":"250460","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834821","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10622","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":175,"name":"Cartilage-hair hypoplasia"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}