Singleton-Merten syndrome 2
Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.
MONDO:0008429
Singleton-Merten dysplasia
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
DDX58 singleton-Merten dysplasia
exact
SGMRT2
related
singleton-Merten dysplasia caused by mutation in DDX58
exact
singleton-Merten syndrome 2
exact
singleton-Merten syndrome type 2
exact