Term Name: | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
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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 ) |