SMO-Related Curry-Jones Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A syndrome caused by a mosaic mutation in the SMO gene which encodes the Smoothened protein, a component of the Hedgehog signaling pathway. It is characterized by the development of trichoblastoma and basal cell carcinoma in the skin, cerebellar medulloblastoma, and intestinal hamartoma.

**Synonyms:** - Curry-Jones Syndrome