| Term Name: | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
|---|---|
| Synonyms: | DBA14 |
| Definition: | A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. |
| Ontology: | Human Disease [DOID:0111897] ( DOID:0111897 ) |