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Diamond-blackfan anemia 3
Summary
- Synonym
-
- DBA3
- RPS24-related Diamond-Blackfan anemia
- Definition
- A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3.
- Super Class
- Diamond-Blackfan anemia autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111887
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
- 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 |
