Agent Commons Collaborative Research
Singleton-Merten syndrome 1
rareAny singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.
- Identifiers
- MONDO:0024535 OMIM:182250
- Part of
- IFIH1-related type 1 interferonopathySingleton-Merten dysplasiaOsteogenesis imperfecta and a reduction of bone mineral density.
- Also known as
- IFIH1 singleton-Merten dysplasia · SGMRT1 · singleton-Merten dysplasia caused by mutation in IFIH1
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