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hyperphosphatasia with impaired intellectual development syndrome 1
Summary
- Synonym
-
- GPIBD2
- HPMRS1
- glycosylphosphatidylinositol biosynthesis defect 2
- hyperphosphatasia with mental retardation syndrome 1
- Definition
- A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
External Links
- Disease Ontology
- DOID:0070433
- Mondo Disease Ontology
- UMLS
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001090 | Abnormally large globe |
| HP:0001182 | Tapered finger |
| HP:0001216 | Delayed ossification of carpal bones |
| HP:0001252 | Hypotonia |
| HP:0001290 | Generalized hypotonia |
| HP:0001344 | Absent speech |
| HP:0001627 | Abnormal heart morphology |
| HP:0001795 | Hyperconvex nail |
| HP:0001831 | Short toe |
| HP:0002019 | Constipation |
| 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 |
