Summary Literature (0)

DOID:0070435 - hyperphosphatasia with impaired intellectual development syndrome 3

Disease Ontology 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.

Synonyms: GPIBD8, HPMRS3, glycosylphosphatidylinositol biosynthesis defect 8, hyperphosphatasia with mental retardation syndrome 3,

Echinobase Genes :


OMIM:

MIM:614207 - hyperphosphatasia with mental retardation syndrome 3; hpmrs3

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

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