Term Name:	combined saposin deficiency
Synonyms:	combined SAP deficiency, encephalopathy due to prosaposin deficiency, PSAPD
Definition:	A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.
Ontology:	Human Disease [DOID:0111330]   ( DOID:0111330 )