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Human Disease
hyperphosphatasia with impaired intellectual development syndrome 1
- Term ID
- DOID:0070433
- Synonyms
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- glycosylphosphatidylinositol biosynthesis defect 2
- GPIBD2
- HPMRS1
- hyperphosphatasia with mental retardation syndrome 1
- Definition
- A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. (2)
- References
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- MIM:239300
- UMLS_CUI:C4551502
- Ontology
- Human Disease ( DOID:0070433 )
- is a type of
-
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