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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:0000175 | Cleft palate |
| HP:0000204 | Cleft upper lip |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000238 | Hydrocephalus |
| HP:0000272 | Malar flattening |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000455 | Broad nasal tip |
| HP:0000750 | Delayed speech and language development |
| 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 |
