Term Name: | Diamond-Blackfan anemia 17 |
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Synonyms: | DBA17, RPS27-related Diamond-Blackfan anemia |
Definition: | A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. |
Ontology: | Human Disease [DOID:0111880] ( DOID:0111880 ) |