{"code":"C133727","name":"Hypoparathyroidism-Intellectual Developmental Disorder-Dysmorphism Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Hypoparathyroidism-Intellectual Developmental Disorder-Dysmorphism Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"HRDS","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hypoparathyroidism-Intellectual Developmental Disorder-Dysmorphism Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hypoparathyroidism-Retardation-Dysmorphism Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Sanjad-Sakati Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hypoparathyroidism-Intellectual Developmental Disorder-Dysmorphism Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. It is characterized by congenital hypoparathyroidism, mental retardation, seizures and developmental delay.","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":"C1855840"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C28193","name":"Syndrome"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C190660","relatedName":"TBCE Gene"}]}