Diamond-Blackfan anemia 17

Term ID

DOID:0111880

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. https://pubmed.ncbi.nlm.nih.gov/25424902/

References

• OMIM:617409

Ontology

Human Disease   ( DOID:0111880 )