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hyperphosphatasia with impaired intellectual development syndrome 2
Summary
- Synonym
-
- GPIBD6
- HPMRS2
- glycosylphosphatidylinositol biosynthesis defect 6
- hyperphosphatasia with mental retardation syndrome 2
- Definition
- A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
External Links
- Disease Ontology
- DOID:0070434
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000455 | Broad nasal tip |
| HP:0000252 | Microcephaly |
| HP:0002023 | Anal atresia |
| HP:0000076 | Vesicoureteral reflux |
| HP:0001631 | Atrial septal defect |
| HP:0003577 | Congenital onset |
| HP:0001252 | Hypotonia |
| HP:0000365 | Hearing impairment |
| HP:0002119 | Ventriculomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| 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 |
