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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
| 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 |
Related Glycoprotein
- The Human Phenotype Ontology
| 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 |
