{"code":"C3962","name":"Adenosine Deaminase Deficiency","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Adenosine Deaminase Deficiency","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"ADA-SCID","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Adenosine Deaminase Deficiency","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Adenosine Deaminase Severe Combined Immune Deficiency","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Adenosine Deaminase Severe Combined Immunodeficiency","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Adenosine Deaminase Deficiency","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID).  The most common form of SCID, accounting for about 50% of autosomal recessive cases.  The first disease for which gene therapy was applied.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P366","type":"Legacy Concept Name","value":"Adenosine_Deaminase_Deficiency"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0268124"}],"parents":[{"code":"C203455","name":"Severe Combined Immunodeficiency with Absence of T, B, and NK Cells"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C30156","relatedName":"ADA Gene"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12735","relatedName":"Immune System"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C150673","relatedName":"Lymphoproliferative Disease Associated with Primary Immune Disorder"}]}