{"code":"C85052","name":"Sandhoff Disease","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Sandhoff Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Sandhoff Disease","termType":"DN","type":"FULL_SYN","typeCode":"P90","source":"CTRP"},{"name":"Sandhoff disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"mCode","code":"E75.01","subSource":"ICD-10 CM"},{"name":"Sandhoff Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Sandhoff Disease","type":"Display_Name","typeCode":"P107"},{"name":"Sandhoff Disease","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangliosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"CTRP"},{"code":"P322","type":"Contributing_Source","value":"mCode"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0036161"}],"parents":[{"code":"C197908","name":"GM2 Gangliosidosis"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C201734","relatedName":"HEXB Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}