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 )

Relationships
is a type of: Diamond-Blackfan anemia X-linked recessive disease