{"orpha":178148,"name":"Antenatal multiminicore disease with arthrogryposis multiplex congenita","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Multiminicore myopathy","url":"https://raremap.alftech.space/d/ORPHA-178148/","orphanet_url":"https://www.orpha.net/en/disease/detail/178148","names":{"fr":{"name":"Myopathie à multi-minicores anténatale avec arthrogrypose multiple congénitale"},"de":{"name":"Multiminicore-Krankheit, pränatale, mit kongenitaler Arthrogryposis multiplex"},"es":{"name":"Miopatía de multiminicores prenatal con artrogriposis múltiple congénita"},"it":{"name":"Malattia multiminicore prenatale con artrogriposi multipla congenita"},"nl":{"name":"Antenatale multi-minicore ziekte met arthrogryposis multiplex congenita"},"pt":{"name":"Doença multiminocore antenatal com artrogripose múltipla congénita"},"pl":{"name":"Prenatalna choroba multiminicore z artrogrypozą"},"cs":{"name":"Prenatální multi-mini core nemoc s arthrogryposis multiplex congenita"},"uk":{"name":"Антенатальна мультимініядерна хвороба з вродженим множинним артрогрипозом"},"zh":{"name":"胎儿多轴空病伴先天性多发性关节挛缩"},"tr":{"name":"Doğumsal artrogripozis multipleks ile seyreden antenatal multiminikor hastalığı"}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2136141208"},{"source":"MONDO","code":"0015794","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537474","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843691","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":598,"name":"Multiminicore myopathy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-11","source":"11079538[PMID]","terms":[{"hpo":"HP:0008050","label":"Abnormality of the palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100297","label":"Increased endomysial connective tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003789","label":"Minicore myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002792","label":"Reduced vital capacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null}]}}