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Diamond-Blackfan anemia 12

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0014245:  Diamond-Blackfan anemia 12
UMLS:C3809888: