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bone marrow failure syndrome 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.
Uniprot Description A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra hematopoietic features. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive.
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:617052
UMLS:C4310744
MONDO:0014887
High level summary of knowledge for a disease, including descriptions and datasource references.