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Human Disease
hyperphosphatasia with impaired intellectual development syndrome 3
- Term ID
- DOID:0070435
- Synonyms
-
- glycosylphosphatidylinositol biosynthesis defect 8
- GPIBD8
- HPMRS3
- hyperphosphatasia with mental retardation syndrome 3
- Definition
- A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. (3)
- References
- Ontology
- Human Disease ( DOID:0070435 )
- is a type of
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