Gaucher disease due to saposin C deficiency

Definition

Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.

Also known as atypical Gaucher disease due to saposin C deficiency, atypical Gaucher's disease due to saposin c deficiency, Gaucher disease caused by mutation in PSAP, PSAP Gaucher disease — per MONDO

Also identified as

• DOID 0110961 per MONDO
• MESH C566435 per MONDO
• OMIM 610539 per MONDO
• Orphanet 309252 per MONDO
• SCTID 1156792000 per MONDO
• UMLS C1864651 per MONDO