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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:0000980 | Pallor |
| HP:0001087 | Developmental glaucoma |
| HP:0001199 | Triphalangeal thumb |
| HP:0001227 | Abnormality of the thenar eminence |
| HP:0001254 | Lethargy |
| HP:0001510 | Growth delay |
| HP:0001518 | Small for gestational age |
| HP:0001627 | Abnormal heart morphology |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
