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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

Annotation

Disease association

MONDO:0010221 - CHIME syndrome

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Genes:

MONDO:0012465 - hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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Genes:

MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

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Genes:

MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

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MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

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MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

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MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

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Genes:

MONDO:0014832 - intellectual disability, autosomal recessive 53

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Genes:

MONDO:0013563 - multiple congenital anomalies-hypotonia-seizures syndrome 1

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Genes:

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

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Genes:

MONDO:0014165 - multiple congenital anomalies-hypotonia-seizures syndrome 3

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Genes: