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free sialic acid storage disease

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).
Mondo Term and Equivalent IDs
MONDO:0019366:  free sialic acid storage disease
GARD:0010870: 
MESH:C538523: 
Orphanet:834: 
UMLS:C2931872: 
UMLS:CN206051: