Term Name:	hyperphosphatasia with impaired intellectual development syndrome 1
Synonyms:	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.
Ontology:	Human Disease [DOID:0070433]   ( DOID:0070433 )