{"code":"C75457","name":"Jacobsen Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"11q partial monosomy syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"Jacobsen Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"11q Terminal Deletion Disorder","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Jacobsen Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Jacobsen Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P366","type":"Legacy Concept Name","value":"Jacobsen_Syndrome"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0795841"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R174","type":"Disease_Mapped_To_Chromosome","relatedCode":"C13206","relatedName":"Human Chromosome 11"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}