Singleton-Merten syndrome 1
Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.
MONDO:0008429
Singleton-Merten dysplasia
is_a
MONDO:0700262
IFIH1-related type 1 interferonopathy
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
IFIH1 singleton-Merten dysplasia
exact
SGMRT1
related
singleton-Merten dysplasia caused by mutation in IFIH1
exact