{"code":"C85226","name":"Weill-Marchesani Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Weill-Marchesani Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Weill-Marchesani Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare, autosomal recessive or dominant inherited connective tissue disorder. It is characterized by abnormalities in the lens of the eye, short stature, brachydactyly, and joint stiffness.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0265313"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}