Disease association ontology term - MONDO:0019366 - free sialic acid storage disease
Term summary
- ID
- MONDO:0019366
- Name
- free sialic acid storage disease
- Ontology or CV name
- Disease association
- Definition
- 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).
