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hyperphosphatasia with impaired intellectual development syndrome 5
Summary
- Synonym
-
- GPIBD11
- HPMRS5
- glycosylphosphatidylinositol biosynthesis defect 11
- hyperphosphatasia with mental retardation 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.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
External Links
- Disease Ontology
- DOID:0070432
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000023 | Inguinal hernia |
| HP:0003593 | Infantile onset |
| HP:0012704 | Widened subarachnoid space |
| HP:0001344 | Absent speech |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0011344 | Severe global developmental delay |
| HP:0012736 | Profound global developmental delay |
| HP:0007359 | Focal-onset seizure |
| HP:0000158 | Macroglossia |
| HP:0001537 | Umbilical hernia |
| 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 |
