SMAD6-related disease

MONDO:0700324

A human disease in which the cause of the disease is a variation in the SMAD6 gene, and characterized by craniosynostosis with congenital heart disease and/or radioulnar synostosis.

Also known as: SMAD6-related disease with variable craniosynostosis, aortic valve disease, and/or radioulnar synostosis

12 clinical trials for this condition and its sub-types, 0 tagged with SMAD6-related disease itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18206)

Sub-types of SMAD6-related disease

Aortic valve disease 2 12 trials
Craniosynostosis 7 0 trials
Radioulnar synostosis, nonsyndromic, susceptibility to 0 trials

Including sub-types (12) Tagged with SMAD6-related disease (0)

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