tuberous sclerosis true OMIM:PS191100 CSP2005:0727-2535 MTHICD9_2006:759.5 Tuberous sclerosis syndrome NCI:C3424 OMIM mapping confirmed by DO. [LS]. UMLS_CUI:C0041341 DOID:13515 ICD10CM:Q85.1 Epiloia Tuberose sclerosis A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. Bourneville's disease ICD9CM:759.5 GARD:7830 disease_ontology Tuberous sclerosis, a genetic disorder, is a common cause of malformations of cortical development, with a birth incidence of 1:6000 births. It is a disorder caused by a defect in the mTOR pathway, an intracellular pathway that regulates cell growth and differentiation, resulting in abnormalities in a number of organs, including the brain, skin, heart, kidneys and eyes. SNOMEDCT_US_2018_03_01:7199000 NCI2004_11_17:C3424 cerebral sclerosis MESH:D014402 Malformations of Cortical Development