Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0004209 | Clinodactyly of the 5th finger |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0004719 | Hyperechogenic kidneys |
| HP:0004742 | Abnormal renal collecting system morphology |
| HP:0005280 | Depressed nasal bridge |
| HP:0006380 | Knee flexion contracture |
| HP:0006528 | Chronic lung disease |
| HP:0008936 | Axial hypotonia |
| HP:0009748 | Large earlobe |
| HP:0009826 | Limb undergrowth |
| 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 |
