Term Name: | hyperphosphatasia with impaired intellectual development syndrome 2 |
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Synonyms: | glycosylphosphatidylinositol biosynthesis defect 6, GPIBD6, HPMRS2, hyperphosphatasia with mental retardation syndrome 2 |
Definition: | A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. |
Ontology: | Human Disease [DOID:0070434] ( DOID:0070434 ) |