Disease association ontology term - MONDO:0017748 - inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Term summary
ID
MONDO:0017748
Name
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Ontology or CV name
Disease association
Parents
is_a
inherited lipid metabolism disorder
is_a
congenital disorder of glycosylation
is_a
disorder of GPI anchor biosynthesis
Annotation
Disease association
MONDO:0010221
-
CHIME syndrome
References:
PB_REF:0000006
Genes:
gpi12 (SPAPB2B4.01c)
MONDO:0012465
-
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
References:
PB_REF:0000006
Genes:
gpi14 (SPBC13E7.05)
MONDO:0009398
-
hyperphosphatasia with intellectual disability syndrome 1
References:
PB_REF:0000006
Genes:
gpi18 (SPAC18B11.05)
MONDO:0013882
-
hyperphosphatasia with intellectual disability syndrome 2
References:
PB_REF:0000006
Genes:
gpi13 (SPBC27B12.06)
MONDO:0014318
-
hyperphosphatasia with intellectual disability syndrome 4
References:
PB_REF:0000006
Genes:
pga3 (SPAC823.07)
MONDO:0014457
-
hyperphosphatasia with intellectual disability syndrome 5
References:
PB_REF:0000006
Genes:
gwt1 (SPAC144.10c)
MONDO:0014780
-
hyperphosphatasia with intellectual disability syndrome 6
References:
PB_REF:0000006
Genes:
pig25 (SPAC227.19c)
MONDO:0014832
-
intellectual disability, autosomal recessive 53
References:
PB_REF:0000006
Genes:
gpi7 (SPAC13G6.03)
MONDO:0013563
-
multiple congenital anomalies-hypotonia-seizures syndrome 1
References:
PB_REF:0000006
Genes:
its8 (SPBC839.08c)
MONDO:0010466
-
multiple congenital anomalies-hypotonia-seizures syndrome 2
References:
PB_REF:0000006
Genes:
gpi3 (SPBC3D6.07)
MONDO:0014165
-
multiple congenital anomalies-hypotonia-seizures syndrome 3
References:
PB_REF:0000006
Genes:
gpi16 (SPBC1604.15)