Diamond-Blackfan anemia
cv_term_accession
KW-1024
canonical
uniprot_keyword
KW-1024
canonical
name
Diamond-Blackfan anemia
uniprot
synonym
Aase syndrome
uniprot
synonym
Aase-Smith syndrome II
uniprot
synonym
BDS
uniprot
synonym
Blackfan-Diamond disease
uniprot
synonym
Blackfan-Diamond syndrome
uniprot
synonym
Chronic congenital aregenerative anemia
uniprot
synonym
Congenital erythroid hypoplastic anemia
uniprot
synonym
Congenital hypoplastic anemia of Blackfan and Diamond
uniprot
synonym
DBA
uniprot
synonym
Erythrogenesis imperfecta
uniprot
synonym
Pure red cell aplasia
uniprot
definition
Protein which, if defective, causes Diamond-Blackfan anemia, a rare congenital non-regenerative hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 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.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords