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Diamond-Blackfan anemia 18
Summary
- Synonym
-
- DBA18
- RPL18-related Diamond-Blackfan anemia
- Definition
- A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.
- Super Class
- Diamond-Blackfan anemia autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111896
- Mondo Disease Ontology
- OMIM
Related Genes
- 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 |
