Diamond Blackfan anemia 15 with mandibulofacial dysostosis

Summary

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 RPS28 on chromosome 19p13.2.

Synonyms: DBA15

In OMIM:

OMIM:606164 - DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

OMIM:606164 - DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

Parent(s): Diamond-Blackfan anemia (is_a), autosomal dominant disease (is_a)