free sialic acid storage disease, infantile form
ISSD
exact
infantile free sialic acid storage disease
related
infantile sialic acid storage disease
related
infantile sialic acid storage disorder
related
sialic acid storage disorder, infantile
exact
sialuria, infantile form
related
MONDO:0017706
disorder of carbohydrate transmembrane transport and absorption
is_a
MONDO:0019366
free sialic acid storage disease
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
SPBC2G2.01c SPCC757.13 SPBC1773.15 SPBC1683.12 SPCC417.10 SPAC1039.04 SPCPB1C11.03 SPAC1002.16c SPBC460.05 SPAC11D3.18c SPBPB10D8.01