hyperphosphatasia with impaired intellectual development syndrome 5

Summary

DOID:0070432 - hyperphosphatasia with impaired intellectual development syndrome 5

Disease Ontology 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.

Synonyms: glycosylphosphatidylinositol biosynthesis defect 11, GPIBD11, HPMRS5, hyperphosphatasia with mental retardation syndrome 5

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pigw

MIM:

MIM:616025 - GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

MIM:616025 - GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): hyperphosphatasia with impaired intellectual development syndrome (is_a)