Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Disease Ontology Browser

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Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (DOID:0111894)
Alliance: disease page
Synonyms: DBA15
Alt IDs: OMIM:606164
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.

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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