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DOID:0070433 - hyperphosphatasia with impaired intellectual development syndrome 1
Disease Ontology 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.
Synonyms: GPIBD2, HPMRS1, glycosylphosphatidylinositol biosynthesis defect 2, hyperphosphatasia with mental retardation syndrome 1,
Xenbase Genes : pigv
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee