Gaucher disease due to saposin C deficiency https://github.com/monarch-initiative/mondo/issues/6019 https://www.malacards.org/card/gaucher_disease_atypical_due_to_saposin_c_deficiency DOID:0110961 Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. Orphanet:309252 MESH:C566435 OMIM:610539 UMLS:C1864651 atypical Gaucher disease due to saposin C deficiency MONDO:0012517 Gaucher disease, atypical GARD:0012503 PSAP Gaucher disease Gaucher disease caused by mutation in PSAP atypical Gaucher's disease due to saposin c deficiency SCTID:1156792000 MEDGEN:350479 Gaucher disease PSAP-related sphingolipidosis