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
Disease Ontology
DOID:0070434
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84720 PIGO phosphatidylinositol glycan anchor biosynthesis class O
Displaying 1 entry
Gene ID Gene Symbol Description Source
850628 GPI13 mannose-ethanolamine phosphotransferase GPI13
The Human Phenotype Ontology
Displaying entries 71 - 78 of 78 in total
HPO ID HPO Term
HP:0003196 Short nose
HP:0010055 Broad hallux
HP:0002025 Anal stenosis
HP:0011316 Left unicoronal synostosis
HP:0000175 Cleft palate
HP:0001804 Hypoplastic fingernail
HP:0004969 Peripheral pulmonary artery stenosis
HP:0000750 Delayed speech and language development
Displaying all 7 entries
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024