{"orpha":619249,"name":"Rare hereditary connective tissue disease","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-619249/","orphanet_url":"https://www.orpha.net/en/disease/detail/619249","names":{"fr":{"name":"Maladie héréditaire rare du tissu conjonctif"},"de":{"name":"Seltene hereditäre Erkrankung des Bindegewebes"},"es":{"name":"Enfermedad del tejido conjuntivo hereditaria rara"},"it":{"name":"Malattia ereditaria rara del tessuto connettivo"},"nl":{"name":"Zeldzame hereditaire aandoening van bindweefsel","synonyms":["Zeldzame erfelijke aandoening van bindweefsel"]},"pt":{"name":"Doença do tecido conjuntivo hereditária rara"},"pl":{"name":"Rzadka dziedziczna choroba tkanki łącznej"},"cs":{"name":"Vzácné dědičné onemocnění pojivové tkáně"},"uk":{"name":"Рідкісне спадкове захворювання сполучної тканини"}},"xrefs":[{"source":"UMLS","code":"C5681831","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]}],"children":[{"orpha":300284,"name":"Connective tissue disorder due to lysyl hydroxylase-3 deficiency","type":"Disease"},{"orpha":98249,"name":"Ehlers-Danlos syndrome","type":"Clinical group"},{"orpha":230857,"name":"Ehlers-Danlos/osteogenesis imperfecta syndrome","type":"Disease"},{"orpha":697101,"name":"Fontaine progeroid syndrome","type":"Disease"},{"orpha":238569,"name":"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome","type":"Disease"},{"orpha":284993,"name":"Marfan syndrome and Marfan-related disorders","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}