hyperphosphatasia with impaired intellectual development syndrome 2

Term ID

DOID:0070434

Synonyms

• glycosylphosphatidylinositol biosynthesis defect 6
• GPIBD6
• HPMRS2
• hyperphosphatasia with mental retardation syndrome 2

Definition

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. https://pubmed.ncbi.nlm.nih.gov/22683086/

References

• OMIM:614749

Ontology

Human Disease   ( DOID:0070434 )