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hyperphosphatasia with impaired intellectual development syndrome 3
Summary
- Synonym
-
- GPIBD8
- HPMRS3
- glycosylphosphatidylinositol biosynthesis defect 8
- hyperphosphatasia with mental retardation 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.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
External Links
- Disease Ontology
- DOID:0070435
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001792 | Small nail |
| HP:0001999 | Abnormal facial shape |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002251 | Aganglionic megacolon |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0002553 | Highly arched eyebrow |
| HP:0002558 | Supernumerary nipple |
| HP:0002650 | Scoliosis |
| HP:0002696 | Abnormal parietal bone morphology |
| 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 |
