| Disease ID | Source | Name | Description |
| 618312 | OMIM | Diamond-Blackfan anemia 19 (DBA19) | A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA19 inheritance is autosomal dominant. The disease may be caused by variants affecting the gene represented in this entry. |