{"code":"C84906","name":"Mulibrey Nanism","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Mulibrey Nanism","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"CCPS"},{"name":"Mulibrey Nanism","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Mulibrey Nanism","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Perheentupa Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Mulibrey Nanism","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Mulibrey Nanism","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal recessive disorder caused by mutation(s) in the TRIM37 gene, encoding E3 ubiquitin-protein ligase TRIM37. Mulibrey is a contraction of muscle, liver, brain, and eyes. \"Nanism\" is a synonym for \"dwarfism\". This condition is associated with characteristic facial features, including hypertelorism, pubertal delay, occasional progressive cardiomyopathy, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"},{"definition":"An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CCPS"},{"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":"C0524582"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C177198","relatedName":"TRIM37 Gene"}]}