hyperphosphatasia with impaired intellectual development syndrome 1

Summary

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: glycosylphosphatidylinositol biosynthesis defect 2, GPIBD2, HPMRS1, hyperphosphatasia with mental retardation syndrome 1

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

: pigv

MIM:

MIM:239300 - HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1; HPMRS1

MIM:239300 - HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1; HPMRS1

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)