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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:0001892 | Abnormal bleeding |
| HP:0001031 | Subcutaneous lipoma |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0000331 | Short chin |
| HP:0002007 | Frontal bossing |
| HP:0002576 | Intussusception |
| HP:0001290 | Generalized hypotonia |
| HP:0000256 | Macrocephaly |
| HP:0001999 | Abnormal facial shape |
| HP:0002249 | Melena |
