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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P62847 | Small ribosomal subunit protein eS24 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002863 | Myelodysplasia |
| HP:0004322 | Short stature |
| HP:0004808 | Acute myeloid leukemia |
| HP:0005280 | Depressed nasal bridge |
| HP:0005518 | Increased mean corpuscular volume |
| HP:0005532 | Macrocytic dyserythropoietic anemia |
| HP:0006758 | Malignant genitourinary tract tumor |
| HP:0008551 | Microtia |
| HP:0009777 | Absent thumb |
| HP:0009778 | Short thumb |
