chromosome 10q23 deletion syndrome

Summary
Definition
A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0060389
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
4153 MBL2 mannose binding lectin 2
4595 MUTYH mutY DNA glycosylase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 42 in total
HPO ID HPO Term
HP:0000160 Narrow mouth
HP:0000256 Macrocephaly
HP:0000316 Hypertelorism
HP:0000331 Short chin
HP:0000369 Low-set ears
HP:0000494 Downslanted palpebral fissures
HP:0001028 Hemangioma
HP:0001031 Subcutaneous lipoma
HP:0001249 Intellectual disability
HP:0001256 Intellectual disability, mild
Displaying 1 entry
Gene ID Gene Symbol Description
5728 PTEN phosphatase and tensin homolog

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024