Term Name: hyperphosphatasia with impaired intellectual development syndrome 3
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 )

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