combined PSAP deficiency https://github.com/monarch-initiative/mondo/issues/6019 https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency https://www.malacards.org/card/combined_saposin_deficiency GARD:0012505 DOID:0111330 PSAPD combined SAP deficiency UMLS:C2673635 OMIM:611721 encephalopathy due to prosaposin deficiency MONDO:0012719 MESH:C567125 SCTID:720864008 MEDGEN:382151 Orphanet:139406 combined prosaposin deficiency combined saposin deficiency Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses. PSAP-related sphingolipidosis