1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111894 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:1342 | congenital hypoplastic anemia | An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. |
