hyperphosphatasia with impaired intellectual development syndrome 4

Summary

DOID:0070436 - hyperphosphatasia with impaired intellectual development syndrome 4

Disease Ontology Definition:A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12.

Synonyms: GPIBD62, HPMRS6, hyperphosphatasia with mental retardation syndrome 6, glycosylphosphatidylinositol biosynthesis defect 62

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

: pgap3

MIM:

MIM:615716 - HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4; HPMRS4

MIM:615716 - HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4; HPMRS4

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

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

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