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Diamond-Blackfan anemia 4
Summary
- Synonym
-
- DBA4
- RPS17-related Diamond-Blackfan anemia
- Definition
- A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2.
- Super Class
- Diamond-Blackfan anemia autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111890
- Mondo Disease Ontology
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08708 | Small ribosomal subunit protein eS17 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011904 | Persistence of hemoglobin F |
| HP:0012410 | Pure red cell aplasia |
| HP:0009944 | Partial duplication of thumb phalanx |
| HP:0012758 | Neurodevelopmental delay |
| HP:0012133 | Erythroid hypoplasia |
