Term Name: | Diamond-Blackfan anemia 4 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111890] ( DOID:0111890 ) |