| Metadata | |
|---|---|
| ID | DOID:0070435 |
| Name | hyperphosphatasia with impaired intellectual development syndrome 3 |
| Definition | A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. https://pubmed.ncbi.nlm.nih.gov/23561846/, https://pubmed.ncbi.nlm.nih.gov/23561847/, https://pubmed.ncbi.nlm.nih.gov/36833286/ |
| Xrefs | |
| Synonyms |
glycosylphosphatidylinositol biosynthesis defect 8 [EXACT] GPIBD8 [EXACT] HPMRS3 [EXACT] hyperphosphatasia with mental retardation syndrome 3 [EXACT] |
| Parent Relationships |
is_a hyperphosphatasia with impaired intellectual development syndrome |