| Metadata | |
|---|---|
| ID | DOID:0070432 |
| Name | hyperphosphatasia with impaired intellectual development 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/ |
| Xrefs | |
| Synonyms |
glycosylphosphatidylinositol biosynthesis defect 11 [EXACT] GPIBD11 [EXACT] HPMRS5 [EXACT] hyperphosphatasia with mental retardation syndrome 5 [EXACT] |
| Parent Relationships |
is_a hyperphosphatasia with impaired intellectual development syndrome |