free sialic acid storage disease
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:0019246
inborn disorder of lysosomal amino acid transport
is_a
free sialic acid storage disease
exact
SPCC417.10 SPBC1773.15 SPAC11D3.18c SPBPB10D8.01 SPBC460.05 SPBC2G2.01c SPAC1039.04 SPCPB1C11.03 SPCC757.13 SPBC1683.12 SPAC1002.16c