Term Name: Diamond-Blackfan anemia 17
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 )

Relationships
is a type of: autosomal dominant disease Diamond-Blackfan anemia