Term Name: | hyperphosphatasia with impaired intellectual development syndrome 3 |
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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. |
Ontology: | Human Disease [DOID:0070435] ( DOID:0070435 ) |