Term Name: Diamond-Blackfan anemia 1
Synonyms: DBA1, RPS19-related Diamond-Blackfan anemia
Definition: A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2.
Ontology: Human Disease [DOID:0111895]   ( DOID:0111895 )

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