| umls-concept:C0037903 | skos:definition | MSH: An enzyme that catalyzes the hydrolysis of sphingomyelin to ceramide (N-acylsphingosine) plus choline phosphate. A defect in this enzyme leads to NIEMANN-PICK DISEASE. EC 3.1.4.12.,CSP: catalyzes the hydrolysis of sphingomyelin to ceramide defect in this enzyme leads to Niemann-Pick disease. | lld:umls |
