{"code":"C99099","name":"Type I Acrocephalosyndactyly","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Type I Acrocephalosyndactyly","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Apert Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Type I Acrocephalosyndactyly","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Acrocephalosyndactyly Type I","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Type I Acrocephalosyndactyly","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Type I Acrocephalosyndactyly","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.","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":"Congenital Abnormality"},{"code":"P207","type":"UMLS_CUI","value":"C0001193"}],"parents":[{"code":"C34348","name":"Acrocephalosyndactyly"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C53302","relatedName":"Congenital Lesion"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C19931","relatedName":"FGFR2 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}