hyperphosphatasia with impaired intellectual development syndrome 6

Summary

DOID:0070437 - hyperphosphatasia with impaired intellectual development syndrome 6

Disease Ontology Definition:A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.

Synonyms: glycosylphosphatidylinositol biosynthesis defect 40, GPIBD40, HPMRS4, hyperphosphatasia with mental retardation syndrome 4

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

: pigy

MIM:

MIM:616809 - HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6; HPMRS6

MIM:616809 - HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6; HPMRS6

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)