{"code":"C84609","name":"Campomelic Dysplasia","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Campomelic Dysplasia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Campomelic Dysplasia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Campomelic Dysplasia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"CMD","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Campomelic Dysplasia","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads (\"sex reversal\"), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"},{"definition":"A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C1861922"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C75516","relatedName":"SOX9 Gene"}]}