hyperphosphatasia with impaired intellectual development syndrome 5

Term ID

DOID:0070432

Synonyms

• glycosylphosphatidylinositol biosynthesis defect 11
• GPIBD11
• HPMRS5
• hyperphosphatasia with mental retardation syndrome 5

Definition

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. https://pubmed.ncbi.nlm.nih.gov/27626616/

References

• OMIM:616025

Ontology

Human Disease   ( DOID:0070432 )