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Metadata
ID	DOID:0111894
Name	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
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. https://pubmed.ncbi.nlm.nih.gov/24942156/
Xrefs	OMIM:606164
Synonyms	DBA15 [EXACT]
Parent Relationships	is_a Diamond-Blackfan anemia is_a autosomal dominant disease