Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Disease Ontology Browser

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Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (DOID:0111897)
Alliance: disease page
Synonyms: DBA14
Alt IDs: OMIM:300946
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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