hyperphosphatasia with impaired intellectual development syndrome 1

Term ID

DOID:0070433

Synonyms

• glycosylphosphatidylinositol biosynthesis defect 2
• GPIBD2
• HPMRS1
• hyperphosphatasia with mental retardation syndrome 1

Definition

A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. (2)

References

• OMIM:239300
• UMLS_CUI:C4551502

Ontology

Human Disease   ( DOID:0070433 )