Term Name: hyperphosphatasia with impaired intellectual development syndrome 5
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 )

Relationships
is a type of: hyperphosphatasia with impaired intellectual development syndrome