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Metadata
ID	DOID:0111897
Name	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
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. https://pubmed.ncbi.nlm.nih.gov/11424144/, https://pubmed.ncbi.nlm.nih.gov/24942156/
Xrefs	OMIM:300946
Synonyms	DBA14 [EXACT]
Parent Relationships	is_a Diamond-Blackfan anemia is_a X-linked recessive disease