{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","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-139030/","orphanet_url":"https://www.orpha.net/en/disease/detail/139030","names":{"fr":{"name":"Anomalie rare du développement avec anomalies du tissu conjonctif"},"de":{"name":"Seltener Entwicklungsdefekt mit Bindegewebsbeteiligung"},"es":{"name":"Anomalía rara del desarrollo con afectación del tejido conectivo"},"it":{"name":"Difetto raro dello sviluppo con coinvolgimento del tessuto connettivo"},"nl":{"name":"Zeldzaam ontwikkelingsdefect met betrokkenheid van bindweefsel"},"pt":{"name":"Síndrome dismórfico com envolvimento do tecido conjuntivo"},"pl":{"name":"Rzadka wada rozwojowa z udziałem tkanki łącznej"},"cs":{"name":"Vzácné vývojové defekty s postižením pojivové tkáně"},"uk":{"name":"Рідкісна вада розвитку із залученням сполучної тканини"},"zh":{"name":"伴结缔组织受累的罕见发育缺陷"},"tr":{"name":"Bağ dokusu tutulumu ile seyreden nadir gelişimsel defekt"}},"xrefs":[{"source":"MONDO","code":"15332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680622","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93890,"name":"Rare developmental defect during embryogenesis","classifications":[147]},{"orpha":183530,"name":"Rare genetic developmental defect during embryogenesis","classifications":[156]}],"children":[{"orpha":171844,"name":"Blindness-scoliosis-arachnodactyly syndrome","type":"Malformation syndrome"},{"orpha":228410,"name":"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":300284,"name":"Connective tissue disorder due to lysyl hydroxylase-3 deficiency","type":"Disease"},{"orpha":209,"name":"Cutis laxa","type":"Clinical group"},{"orpha":171719,"name":"Cutis laxa-Marfanoid syndrome","type":"Malformation syndrome"},{"orpha":1425,"name":"Desbuquois syndrome","type":"Malformation syndrome"},{"orpha":98249,"name":"Ehlers-Danlos syndrome","type":"Clinical group"},{"orpha":230857,"name":"Ehlers-Danlos/osteogenesis imperfecta syndrome","type":"Disease"},{"orpha":2295,"name":"Familial articular hypermobility syndrome","type":"Disease"},{"orpha":697101,"name":"Fontaine progeroid syndrome","type":"Disease"},{"orpha":79094,"name":"Grange syndrome","type":"Malformation syndrome"},{"orpha":503,"name":"Larsen syndrome","type":"Malformation syndrome"},{"orpha":284139,"name":"Larsen-like syndrome, B3GAT3 type","type":"Malformation syndrome"},{"orpha":2371,"name":"Lethal Larsen-like syndrome","type":"Malformation syndrome"},{"orpha":558,"name":"Marfan syndrome","type":"Disease"},{"orpha":314041,"name":"Marfanoid habitus-inguinal hernia-advanced bone age syndrome","type":"Malformation syndrome"},{"orpha":85174,"name":"Pseudodiastrophic dysplasia","type":"Malformation syndrome"},{"orpha":758,"name":"Pseudoxanthoma elasticum","type":"Disease"},{"orpha":527450,"name":"Severe myopia-generalized joint laxity-short stature syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}