Term Name: Diamond-Blackfan anemia 4
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 )

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