About   Help   FAQ
Disease Ontology Browser
hyperphosphatasia with impaired intellectual development syndrome 2 (DOID:0070434)
Alliance: disease page
Synonyms: glycosylphosphatidylinositol biosynthesis defect 6; GPIBD6; HPMRS2; hyperphosphatasia with mental retardation syndrome 2
Alt IDs: OMIM:614749
Definition: A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory