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Human Disease

Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Term ID
DOID:0111894
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. https://pubmed.ncbi.nlm.nih.gov/24942156/
References
Ontology
Human Disease   ( DOID:0111894 )
Relationships
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Genes Involved
Zebrafish Models