You are using an outdated browser. Please upgrade your browser to improve your experience.

Diamond-Blackfan anemia 10

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 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:0013217:  Diamond-Blackfan anemia 10
MESH:C567649: 
UMLS:C2750080: