sphingolipidosis ASAH1-related sphingolipidosis https://github.com/monarch-initiative/mondo/issues/5881 https://github.com/monarch-initiative/mondo/issues/6882 https://github.com/monarch-initiative/mondo/issues/8921 ASAH1-related sphingolipidosis acid ceramidase deficiency A spectrum of disorders caused by variation(s) in the ASAH1 genel this spectrum includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide. GARD:0026262 MONDO:0100524 ASAH1-related disorders