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Diamond-Blackfan anemia 11
Summary
- Synonym
-
- DBA11
- RPL26-related Diamond-Blackfan anemia
- Definition
- A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1.
- Super Class
- Diamond-Blackfan anemia autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111892
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001680 | Coarctation of aorta |
| HP:0001790 | Nonimmune hydrops fetalis |
| HP:0001873 | Thrombocytopenia |
| HP:0001875 | Neutropenia |
| HP:0001882 | Leukopenia |
| HP:0001894 | Thrombocytosis |
| HP:0001895 | Normochromic anemia |
| HP:0001896 | Reticulocytopenia |
| HP:0002669 | Osteosarcoma |
| HP:0002817 | Abnormality of the upper limb |
