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hyperphosphatasia with impaired intellectual development syndrome 6
Summary
- Synonym
-
- GPIBD40
- HPMRS4
- glycosylphosphatidylinositol biosynthesis defect 40
- hyperphosphatasia with mental retardation syndrome 4
- Definition
- A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
External Links
- Disease Ontology
- DOID:0070437
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001561 | Polyhydramnios |
| HP:0001770 | Toe syndactyly |
| HP:0002013 | Vomiting |
| HP:0002027 | Abdominal pain |
| HP:0002376 | Developmental regression |
| HP:0002987 | Elbow flexion contracture |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003273 | Hip contracture |
| HP:0003577 | Congenital onset |
| HP:0003819 | Death in childhood |
| 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 |
