Metadata | |
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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 | |
Synonyms |
DBA15 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |