{"code":"C85068","name":"Russell-Silver Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Russell-Silver Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Russell-Silver Dwarfism","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Russell-Silver Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Silver-Russell Dwarfism","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Silver-Russell Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Russell-Silver Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Silver-Russell Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Russell-Silver Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A genetic syndrome characterized by prenatal growth restriction, postnatal failure to thrive, short stature, hypoglycemia, insulin resistance, characteristic \"triangular\" facial shape, asymmetry of limbs, and camptodactyly or clinodactyly. Many cases are due to DNA hypomethylation of the imprinting control region 1 on chromosome 11p15.5, affecting the imprinting of H19 and IGF2 genes or maternal uniparental disomy of chromosome 7.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"},{"definition":"A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.","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":"C0175693"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}