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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.
Mondo Term and Equivalent IDs
MONDO:0014887:  bone marrow failure syndrome 3
UMLS:C4310744: