- Watson syndrome [DOID:0070483]
A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2.
- Alagille syndrome [DOID:9245]
A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.