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DOID:0111897 - Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Disease Ontology 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.
Synonyms: DBA14,
Xenbase Genes : tsr2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Diamond-Blackfan anemia (is_a)