{"code":"C215157","name":"Schaaf-Yang Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Schaaf-Yang Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Arthrogryposis, Distal, with Hypopituitarism, Intellectual Developmental Disorder, and Facial Anomalies","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Chitayat-Hall Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Prader-Willi-Like Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"PWLS","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Schaaf-Yang Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"SHFYNG","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Schaaf-Yang Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal dominant condition caused by mutation(s) in the MAGEL2 gene, encoding MAGE-like protein 2. It is characterized by delayed psychomotor development, impaired intellectual development, hypotonia with contractures, behavioral abnormalities, feeding difficulties, and variable dysmorphic facial features.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C3809877"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C215233","relatedName":"MAGEL2 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}