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hyperphosphatasia with impaired intellectual development syndrome 2
Summary
- Synonym
-
- GPIBD6
- HPMRS2
- glycosylphosphatidylinositol biosynthesis defect 6
- hyperphosphatasia with mental retardation 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.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
External Links
- Disease Ontology
- DOID:0070434
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TEQ8 | GPI ethanolamine phosphate transferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001288 | Gait disturbance |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001336 | Myoclonus |
| HP:0001357 | Plagiocephaly |
| HP:0001385 | Hip dysplasia |
| HP:0001510 | Growth delay |
| HP:0001545 | Anteriorly placed anus |
| HP:0001562 | Oligohydramnios |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 27315 | PGAP2 | post-GPI attachment to proteins 2 |
| 284098 | PIGW | phosphatidylinositol glycan anchor biosynthesis class W |
| 55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V |
| 84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y |
| 93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L |
