Agent Commons Collaborative Research
Gaucher disease due to saposin C deficiency
rareAny Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
- Identifiers
- MONDO:0012517 OMIM:610539Orphanet:309252
- Part of
- PSAP-related sphingolipidosis
- 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 · Gaucher disease, atypical · PSAP Gaucher disease
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