Term Name: | Watson syndrome |
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Synonyms: | |
Definition: | 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. |
Ontology: | Human Disease [DOID:0070483] ( DOID:0070483 ) |