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Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Summary
- Synonym
-
- DBA15
- Definition
- A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2.
- Super Class
- Diamond-Blackfan anemia autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111894
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P62857 | Small ribosomal subunit protein eS28 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000316 | Hypertelorism |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000508 | Ptosis |
| HP:0000519 | Developmental cataract |
| HP:0000912 | Sprengel anomaly |
