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Summary Literature (0)
DOID:0111894 - Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Disease Ontology Definition:A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2.

Synonyms: DBA15,

Xenbase Genes :



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), autosomal dominant disease (is_a)