{"code":"C75034","name":"Type III Acrocephalosyndactyly","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Type III Acrocephalosyndactyly","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Saethre-Chotzen Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Type III Acrocephalosyndactyly","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Acrocephalosyndactyly Type III","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Saethre-Chotzen Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Type III Acrocephalosyndactyly","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P366","type":"Legacy Concept Name","value":"Saethre_Chotzen_Syndrome"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0175699"}],"parents":[{"code":"C34348","name":"Acrocephalosyndactyly"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C53302","relatedName":"Congenital Lesion"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C39917","relatedName":"TWIST1 Gene"}]}