Term Name: | hyperphosphatasia with impaired intellectual development syndrome 5 |
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Synonyms: | glycosylphosphatidylinositol biosynthesis defect 11, GPIBD11, HPMRS5, hyperphosphatasia with mental retardation syndrome 5 |
Definition: | A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. |
Ontology: | Human Disease [DOID:0070432] ( DOID:0070432 ) |