Diamond-Blackfan anemia 4

Term ID

DOID:0111890

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. https://pubmed.ncbi.nlm.nih.gov/17647292/

References

• MESH:C567281
• MIM:612527

Ontology

Human Disease   ( DOID:0111890 )