{"code":"C220020","name":"Lenz-Majewski Hyperostotic Dwarfism","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Lenz-Majewski dysplasia","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"Lenz-Majewski Hyperostotic Dwarfism","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Lenz-Majewski Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Lenz-Majewski Hyperostotic Dwarfism","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare autosomal dominant condition caused by mutation(s) in the PTDSS1 gene, encoding phosphatidylserine synthase 1. This condition is characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, distal limb anomalies, including brachydactyly and symphalangism, and progressive generalized hyperostosis that leads to severe growth retardation.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0432269"}],"parents":[{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C222457","relatedName":"PTDSS1 Gene"}]}