{"code":"C85222","name":"Waardenburg Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Waardenburg Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Waardenburg Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Waardenburg Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Waardenburg's Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Waardenburg Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.","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":"C3266898"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}