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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 RPS28 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

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