| Metadata | |
|---|---|
| ID | DOID:0070434 |
| Name | hyperphosphatasia with impaired intellectual development 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/ |
| Xrefs | |
| Synonyms |
glycosylphosphatidylinositol biosynthesis defect 6 [EXACT] GPIBD6 [EXACT] HPMRS2 [EXACT] hyperphosphatasia with mental retardation syndrome 2 [EXACT] |
| Parent Relationships |
is_a hyperphosphatasia with impaired intellectual development syndrome |