Term Name: | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
---|---|
Synonyms: | DBA15 |
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. |
Ontology: | Human Disease [DOID:0111894] ( DOID:0111894 ) |