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Summary Literature (0)
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


MIM:
MIM:300946 - DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Diamond-Blackfan anemia (is_a), X-linked recessive disease (is_a)