Disease association ontology term - MONDO:0800088 - lysosomal storage disease with skeletal involvement
Term summary
ID
MONDO:0800088
Name
lysosomal storage disease with skeletal involvement
Ontology or CV name
Disease association
Parents
is_a
skeletal dysplasia
Annotation
Disease association
MONDO:0010027
-
free sialic acid storage disease, infantile form
References:
PB_REF:0000006
Genes:
dal51 (SPCC417.10)
dal52 (SPBC1773.15)
liz1 (SPBC2G2.01c)
tna1 (SPAC1002.16c)
SPAC1039.04
SPAC11D3.18c
SPBC1683.12
SPBC460.05
SPBPB10D8.01
SPCC757.13
SPCPB1C11.03
MONDO:0009737
-
galactosialidosis
References:
PB_REF:0000006
Genes:
cpy1 (SPAC19G12.10c)
kex1 (SPBC16G5.09)
MONDO:0009661
-
mucopolysaccharidosis type 6
References:
PB_REF:0000006
Genes:
SPBPB10D8.02c
MONDO:0015012
-
mucopolysaccharidosis-plus syndrome
References:
PB_REF:0000006
Genes:
vps33 (SPBC1703.15c)
