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Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
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 RPS28 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:0011639: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:606164
UMLS:C1853576
UMLS:C4225411
MONDO:0011639
High level summary of knowledge for a disease, including descriptions and datasource references.