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encephalopathy due to prosaposin deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.
Uniprot Description Due to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement.
Mondo Term and Equivalent IDs
MONDO:0012719:  encephalopathy due to prosaposin deficiency
DOID:0111330: 
GARD:0012505: 
MESH:C567125: 
Orphanet:139406: 
SCTID:720864008: 
UMLS:C2673635: 
UMLS:C4303785: