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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).
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0010870
MESH:C538523
Orphanet:834
UMLS:C2931872
UMLS:CN206051
MONDO:0019366
High level summary of knowledge for a disease, including descriptions and datasource references.