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MIRAGE
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
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36895 | Bone morphogenetic protein receptor type-1A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001270 | Motor delay |
| HP:0005227 | Adenomatous colonic polyposis |
| HP:0010174 | Broad phalanx of the toes |
| HP:0004326 | Cachexia |
| HP:0011304 | Broad thumb |
| HP:0005505 | Refractory anemia |
| HP:0004322 | Short stature |
| HP:0010797 | Hemangioblastoma |
| HP:0005280 | Depressed nasal bridge |
| HP:0100759 | Clubbing of fingers |
